Linked Data
ClinVar Variation Id:
265752
ClinVar RCV Id:
RCV000255234
dbSNP Id:
rs886039759
gnomAD v2:
3-132390987-G-A
gnomAD v4:
3-132672143-G-A
PubMed:
PMID:27545681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132672143G>A , CM000665.2:g.132672143G>A | GRCh38 |
| NC_000003.11:g.132390987G>A , CM000665.1:g.132390987G>A | GRCh37 |
| NC_000003.10:g.133873677G>A | NCBI36 |
| NG_052968.1:g.22698G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683741.1:c.949G>A (UBA5) | ENSP00000507396.1:p.Val317Met | |
| ENST00000356232.10:c.778G>A (UBA5) MANE Select | ENSP00000348565.4:p.Val260Met | |
| ENST00000264991.8:c.610G>A (UBA5) | ENSP00000264991.4:p.Val204Met | |
| ENST00000356232.8:c.778G>A (UBA5) | ENSP00000348565.4:p.Val260Met | |
| ENST00000468227.5:n.2209G>A (UBA5) | ||
| ENST00000469158.1:n.567G>A (UBA5) | ||
| ENST00000471702.2:c.*1980+9771C>T (NPHP3-ACAD11) | ENSP00000419763.1:n.*1980+9771C>T | |
| ENST00000473651.5:c.778G>A (UBA5) | ENSP00000424984.1:p.Val260Met | |
| ENST00000493720.6:c.778G>A (UBA5) | ENSP00000417879.2:p.Val260Met | |
| ENST00000494238.6:c.610G>A (UBA5) | ENSP00000418807.2:p.Val204Met | |
| ENST00000632629.1:c.636+9771C>T (NPHP3-ACAD11) | ||
| NM_024818.3:c.778G>A (UBA5) | NP_079094.1:p.Val260Met | |
| NM_198329.2:c.610G>A (UBA5) | NP_938143.1:p.Val204Met | |
| NR_037804.1:n.3995+9771C>T (NPHP3-ACAD11) | ||
| XM_006713752.2:c.442G>A (UBA5) | XP_006713815.1:p.Val148Met | |
| XM_011513183.1:c.637G>A (UBA5) | XP_011511485.1:p.Val213Met | |
| XM_011513184.1:c.610G>A (UBA5) | XP_011511486.1:p.Val204Met | |
| XM_011513185.1:c.508G>A (UBA5) | XP_011511487.1:p.Val170Met | |
| NM_001320210.1:c.610G>A (UBA5) | NP_001307139.1:p.Val204Met | |
| NM_001321238.1:c.508G>A (UBA5) | NP_001308167.1:p.Val170Met | |
| NM_001321239.1:c.442G>A (UBA5) | NP_001308168.1:p.Val148Met | |
| NM_024818.4:c.778G>A (UBA5) | NP_079094.1:p.Val260Met | |
| NM_198329.3:c.610G>A (UBA5) | NP_938143.1:p.Val204Met | |
| XR_001740272.1:n.1380G>A (UBA5) | ||
| NM_024818.5:c.778G>A (UBA5) | NP_079094.1:p.Val260Met | |
| NM_001320210.2:c.610G>A (UBA5) | NP_001307139.1:p.Val204Met | |
| NM_001321238.2:c.508G>A (UBA5) | NP_001308167.1:p.Val170Met | |
| NM_024818.6:c.778G>A (UBA5) MANE Select | NP_079094.1:p.Val260Met | |
| NM_198329.4:c.610G>A (UBA5) | NP_938143.1:p.Val204Met |