Linked Data
ClinVar Variation Id:
265746
dbSNP Id:
rs774318611
ExAC:
3:132384669 G / A
gnomAD v2:
3-132384669-G-A
gnomAD v4:
3-132665825-G-A
PubMed:
PMID:27545674
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132665825G>A , CM000665.2:g.132665825G>A | GRCh38 |
| NC_000003.11:g.132384669G>A , CM000665.1:g.132384669G>A | GRCh37 |
| NC_000003.10:g.133867359G>A | NCBI36 |
| NG_052968.1:g.16380G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683741.1:c.335G>A (UBA5) | ENSP00000507396.1:p.Arg112His | |
| ENST00000356232.10:c.164G>A (UBA5) MANE Select | ENSP00000348565.4:p.Arg55His | |
| ENST00000264991.8:c.-5G>A (UBA5) | ENSP00000264991.4:n.-5G>A | |
| ENST00000356232.8:c.164G>A (UBA5) | ENSP00000348565.4:p.Arg55His | |
| ENST00000464068.5:c.28-2993G>A (UBA5) | ENSP00000420055.1:n.28-2993G>A | |
| ENST00000464101.2:n.359G>A (UBA5) | ||
| ENST00000468022.5:c.-5G>A (UBA5) | ENSP00000418569.1:n.-5G>A | |
| ENST00000471702.2:c.*1980+16089C>T (NPHP3-ACAD11) | ENSP00000419763.1:n.*1980+16089C>T | |
| ENST00000473651.5:c.164G>A (UBA5) | ENSP00000424984.1:p.Arg55His | |
| ENST00000489361.1:c.-5G>A (UBA5) | ENSP00000417905.1:n.-5G>A | |
| ENST00000493720.6:c.164G>A (UBA5) | ENSP00000417879.2:p.Arg55His | |
| ENST00000494238.6:c.-5G>A (UBA5) | ENSP00000418807.2:n.-5G>A | |
| ENST00000505777.5:c.162-2993G>A (UBA5) | ENSP00000427233.1:n.162-2993G>A | |
| ENST00000632629.1:c.636+16089C>T (NPHP3-ACAD11) | ||
| NM_024818.3:c.164G>A (UBA5) | NP_079094.1:p.Arg55His | |
| NM_198329.2:c.-5G>A (UBA5) | NP_938143.1:n.-5G>A | |
| NR_037804.1:n.3995+16089C>T (NPHP3-ACAD11) | ||
| XM_006713752.2:c.-39-2993G>A (UBA5) | XP_006713815.1:n.-39-2993G>A | |
| XM_011513184.1:c.-5G>A (UBA5) | XP_011511486.1:n.-5G>A | |
| XM_011513185.1:c.28-2993G>A (UBA5) | XP_011511487.1:n.28-2993G>A | |
| NM_001320210.1:c.-5G>A (UBA5) | NP_001307139.1:n.-5G>A | |
| NM_001321238.1:c.28-2993G>A (UBA5) | NP_001308167.1:n.28-2993G>A | |
| NM_001321239.1:c.-39-2993G>A (UBA5) | NP_001308168.1:n.-39-2993G>A | |
| NM_024818.4:c.164G>A (UBA5) | NP_079094.1:p.Arg55His | |
| NM_198329.3:c.-5G>A (UBA5) | NP_938143.1:n.-5G>A | |
| XR_001740272.1:n.766G>A (UBA5) | ||
| NM_024818.5:c.164G>A (UBA5) | NP_079094.1:p.Arg55His | |
| NM_001320210.2:c.-5G>A (UBA5) | NP_001307139.1:n.-5G>A | |
| NM_001321238.2:c.28-2993G>A (UBA5) | NP_001308167.1:n.28-2993G>A | |
| NM_024818.6:c.164G>A (UBA5) MANE Select | NP_079094.1:p.Arg55His | |
| NM_198329.4:c.-5G>A (UBA5) | NP_938143.1:n.-5G>A |