| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 260377 | single nucleotide variant | NM_024818.4(UBA5):c.1111G>A (p.Ala371Thr) | 114925667 | MedGen:CN238683,OMIM:617132 | 3 | 132675903 | 132675903 | G | A |
| 260377 | single nucleotide variant | NM_024818.4(UBA5):c.1111G>A (p.Ala371Thr) | 114925667 | MedGen:CN238683,OMIM:617132 | 3 | 132394747 | 132394747 | G | A |
| 260378 | single nucleotide variant | NM_024818.4(UBA5):c.164G>A (p.Arg55His) | 774318611 | MedGen:CN238683,OMIM:617132 | 3 | 132665825 | 132665825 | G | A |
| 260378 | single nucleotide variant | NM_024818.4(UBA5):c.164G>A (p.Arg55His) | 774318611 | MedGen:CN238683,OMIM:617132 | 3 | 132384669 | 132384669 | G | A |
| 260379 | single nucleotide variant | NM_024818.4(UBA5):c.855C>A (p.Tyr285Ter) | 745968949 | MedGen:CN238683,OMIM:617132 | 3 | 132394134 | 132394134 | C | A |
| 260379 | single nucleotide variant | NM_024818.4(UBA5):c.855C>A (p.Tyr285Ter) | 745968949 | MedGen:CN238683,OMIM:617132 | 3 | 132675290 | 132675290 | C | A |
| 260380 | single nucleotide variant | NM_024818.4(UBA5):c.181C>T (p.Arg61Ter) | 886039756 | MedGen:CN238683,OMIM:617132 | 3 | 132384686 | 132384686 | C | T |
| 260380 | single nucleotide variant | NM_024818.4(UBA5):c.181C>T (p.Arg61Ter) | 886039756 | MedGen:CN238683,OMIM:617132 | 3 | 132665842 | 132665842 | C | T |
| 260381 | single nucleotide variant | NM_024818.4(UBA5):c.562C>T (p.Arg188Ter) | 374052333 | MedGen:CN238683,OMIM:617132 | 3 | 132389876 | 132389876 | C | T |
| 260381 | single nucleotide variant | NM_024818.4(UBA5):c.562C>T (p.Arg188Ter) | 374052333 | MedGen:CN238683,OMIM:617132 | 3 | 132671032 | 132671032 | C | T |
| 260382 | single nucleotide variant | NM_024818.4(UBA5):c.904C>T (p.Gln302Ter) | 886039757 | MedGen:CN238683,OMIM:617132 | 3 | 132394183 | 132394183 | C | T |
| 260382 | single nucleotide variant | NM_024818.4(UBA5):c.904C>T (p.Gln302Ter) | 886039757 | MedGen:CN238683,OMIM:617132 | 3 | 132675339 | 132675339 | C | T |
| 260383 | insertion | NM_024818.4(UBA5):c.971_972insC (p.Lys324Asnfs) | 886039758 | MedGen:CN238683,OMIM:617132 | 3 | 132394471 | 132394472 | - | C |
| 260383 | insertion | NM_024818.4(UBA5):c.971_972insC (p.Lys324Asnfs) | 886039758 | MedGen:CN238683,OMIM:617132 | 3 | 132675627 | 132675628 | - | C |
| 260384 | single nucleotide variant | NM_024818.4(UBA5):c.778G>A (p.Val260Met) | 886039759 | MedGen:CN238683,OMIM:617132 | 3 | 132672143 | 132672143 | G | A |
| 260384 | single nucleotide variant | NM_024818.4(UBA5):c.778G>A (p.Val260Met) | 886039759 | MedGen:CN238683,OMIM:617132 | 3 | 132390987 | 132390987 | G | A |
| 260385 | single nucleotide variant | NM_024818.4(UBA5):c.1165G>T (p.Asp389Tyr) | 886039760 | MedGen:CN238683,OMIM:617132 | 3 | 132395320 | 132395320 | G | T |
| 260385 | single nucleotide variant | NM_024818.4(UBA5):c.1165G>T (p.Asp389Tyr) | 886039760 | MedGen:CN238683,OMIM:617132 | 3 | 132676476 | 132676476 | G | T |
| 260386 | single nucleotide variant | NM_024818.4(UBA5):c.503G>A (p.Gly168Glu) | 886039761 | MedGen:CN238683,OMIM:617132 | 3 | 132389817 | 132389817 | G | A |
| 260386 | single nucleotide variant | NM_024818.4(UBA5):c.503G>A (p.Gly168Glu) | 886039761 | MedGen:CN238683,OMIM:617132 | 3 | 132670973 | 132670973 | G | A |
| 260387 | single nucleotide variant | NM_024818.4(UBA5):c.169A>G (p.Met57Val) | 532178791 | MedGen:CN238683,OMIM:617132 | 3 | 132665830 | 132665830 | A | G |
| 260387 | single nucleotide variant | NM_024818.4(UBA5):c.169A>G (p.Met57Val) | 532178791 | MedGen:CN238683,OMIM:617132 | 3 | 132384674 | 132384674 | A | G |
| 260388 | single nucleotide variant | NM_024818.4(UBA5):c.736C>T (p.Arg246Ter) | 540839115 | MedGen:CN238684,OMIM:617133 | 3 | 132672101 | 132672101 | C | T |
| 260388 | single nucleotide variant | NM_024818.4(UBA5):c.736C>T (p.Arg246Ter) | 540839115 | MedGen:CN238684,OMIM:617133 | 3 | 132390945 | 132390945 | C | T |
| 260389 | single nucleotide variant | NM_198329.3(UBA5):c.760A>G (p.Lys254Glu) | 886039762 | MedGen:CN238684,OMIM:617133 | 3 | 132675363 | 132675363 | A | G |
| 260389 | single nucleotide variant | NM_198329.3(UBA5):c.760A>G (p.Lys254Glu) | 886039762 | MedGen:CN238684,OMIM:617133 | 3 | 132394207 | 132394207 | A | G |