Linked Data
ClinVar Variation Id:
1935208
ClinVar RCV Id:
RCV002623037
dbSNP Id:
rs763173306
ExAC:
3:132389826 A / G
gnomAD v2:
3-132389826-A-G
gnomAD v3:
3-132670982-A-G
gnomAD v4:
3-132670982-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132670982A>G , CM000665.2:g.132670982A>G | GRCh38 |
| NC_000003.11:g.132389826A>G , CM000665.1:g.132389826A>G | GRCh37 |
| NC_000003.10:g.133872516A>G | NCBI36 |
| NG_052968.1:g.21537A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683741.1:c.683A>G (UBA5) | ENSP00000507396.1:p.Glu228Gly | |
| ENST00000356232.10:c.512A>G (UBA5) MANE Select | ENSP00000348565.4:p.Glu171Gly | |
| ENST00000264991.8:c.344A>G (UBA5) | ENSP00000264991.4:p.Glu115Gly | |
| ENST00000356232.8:c.512A>G (UBA5) | ENSP00000348565.4:p.Glu171Gly | |
| ENST00000464068.5:c.242A>G (UBA5) | ENSP00000420055.1:p.Glu81Gly | |
| ENST00000468227.5:n.1775A>G (UBA5) | ||
| ENST00000469158.1:n.301A>G (UBA5) | ||
| ENST00000471702.2:c.*1980+10932T>C (NPHP3-ACAD11) | ENSP00000419763.1:n.*1980+10932T>C | |
| ENST00000473651.5:c.512A>G (UBA5) | ENSP00000424984.1:p.Glu171Gly | |
| ENST00000493720.6:c.512A>G (UBA5) | ENSP00000417879.2:p.Glu171Gly | |
| ENST00000494238.6:c.344A>G (UBA5) | ENSP00000418807.2:p.Glu115Gly | |
| ENST00000505777.5:c.*181A>G (UBA5) | ENSP00000427233.1:n.*181A>G | |
| ENST00000632629.1:c.636+10932T>C (NPHP3-ACAD11) | ||
| NM_024818.3:c.512A>G (UBA5) | NP_079094.1:p.Glu171Gly | |
| NM_198329.2:c.344A>G (UBA5) | NP_938143.1:p.Glu115Gly | |
| NR_037804.1:n.3995+10932T>C (NPHP3-ACAD11) | ||
| XM_006713752.2:c.176A>G (UBA5) | XP_006713815.1:p.Glu59Gly | |
| XM_011513183.1:c.371A>G (UBA5) | XP_011511485.1:p.Glu124Gly | |
| XM_011513184.1:c.344A>G (UBA5) | XP_011511486.1:p.Glu115Gly | |
| XM_011513185.1:c.242A>G (UBA5) | XP_011511487.1:p.Glu81Gly | |
| NM_001320210.1:c.344A>G (UBA5) | NP_001307139.1:p.Glu115Gly | |
| NM_001321238.1:c.242A>G (UBA5) | NP_001308167.1:p.Glu81Gly | |
| NM_001321239.1:c.176A>G (UBA5) | NP_001308168.1:p.Glu59Gly | |
| NM_024818.4:c.512A>G (UBA5) | NP_079094.1:p.Glu171Gly | |
| NM_198329.3:c.344A>G (UBA5) | NP_938143.1:p.Glu115Gly | |
| XR_001740272.1:n.1114A>G (UBA5) | ||
| NM_024818.5:c.512A>G (UBA5) | NP_079094.1:p.Glu171Gly | |
| NM_001320210.2:c.344A>G (UBA5) | NP_001307139.1:p.Glu115Gly | |
| NM_001321238.2:c.242A>G (UBA5) | NP_001308167.1:p.Glu81Gly | |
| NM_024818.6:c.512A>G (UBA5) MANE Select | NP_079094.1:p.Glu171Gly | |
| NM_198329.4:c.344A>G (UBA5) | NP_938143.1:p.Glu115Gly |