Linked Data
ClinVar Variation Id:
265753
ClinVar RCV Id:
RCV000255798
dbSNP Id:
rs886039760
gnomAD v4:
3-132676476-G-T
PubMed:
PMID:27545681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132676476G>T , CM000665.2:g.132676476G>T | GRCh38 |
| NC_000003.11:g.132395320G>T , CM000665.1:g.132395320G>T | GRCh37 |
| NC_000003.10:g.133878010G>T | NCBI36 |
| NG_052968.1:g.27031G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683741.1:c.1336G>T (UBA5) | ENSP00000507396.1:p.Asp446Tyr | |
| ENST00000356232.10:c.1165G>T (UBA5) MANE Select | ENSP00000348565.4:p.Asp389Tyr | |
| ENST00000264991.8:c.997G>T (UBA5) | ENSP00000264991.4:p.Asp333Tyr | |
| ENST00000356232.8:c.1165G>T (UBA5) | ENSP00000348565.4:p.Asp389Tyr | |
| ENST00000468227.5:n.2596G>T (UBA5) | ||
| ENST00000471702.2:c.*1980+5438C>A (NPHP3-ACAD11) | ENSP00000419763.1:n.*1980+5438C>A | |
| ENST00000473651.5:c.*14G>T (UBA5) | ENSP00000424984.1:n.*14G>T | |
| ENST00000493720.6:c.1132-379G>T (UBA5) | ENSP00000417879.2:n.1132-379G>T | |
| ENST00000494112.1:n.440G>T (UBA5) | ||
| ENST00000494238.6:c.997G>T (UBA5) | ENSP00000418807.2:p.Asp333Tyr | |
| ENST00000632629.1:c.636+5438C>A (NPHP3-ACAD11) | ||
| NM_024818.3:c.1165G>T (UBA5) | NP_079094.1:p.Asp389Tyr | |
| NM_198329.2:c.997G>T (UBA5) | NP_938143.1:p.Asp333Tyr | |
| NR_037804.1:n.3995+5438C>A (NPHP3-ACAD11) | ||
| XM_006713752.2:c.829G>T (UBA5) | XP_006713815.1:p.Asp277Tyr | |
| XM_011513183.1:c.1024G>T (UBA5) | XP_011511485.1:p.Asp342Tyr | |
| XM_011513184.1:c.997G>T (UBA5) | XP_011511486.1:p.Asp333Tyr | |
| XM_011513185.1:c.895G>T (UBA5) | XP_011511487.1:p.Asp299Tyr | |
| NM_001320210.1:c.997G>T (UBA5) | NP_001307139.1:p.Asp333Tyr | |
| NM_001321238.1:c.895G>T (UBA5) | NP_001308167.1:p.Asp299Tyr | |
| NM_001321239.1:c.829G>T (UBA5) | NP_001308168.1:p.Asp277Tyr | |
| NM_024818.4:c.1165G>T (UBA5) | NP_079094.1:p.Asp389Tyr | |
| NM_198329.3:c.997G>T (UBA5) | NP_938143.1:p.Asp333Tyr | |
| XR_001740272.1:n.1631G>T (UBA5) | ||
| NM_024818.5:c.1165G>T (UBA5) | NP_079094.1:p.Asp389Tyr | |
| NM_001320210.2:c.997G>T (UBA5) | NP_001307139.1:p.Asp333Tyr | |
| NM_001321238.2:c.895G>T (UBA5) | NP_001308167.1:p.Asp299Tyr | |
| NM_024818.6:c.1165G>T (UBA5) MANE Select | NP_079094.1:p.Asp389Tyr | |
| NM_198329.4:c.997G>T (UBA5) | NP_938143.1:p.Asp333Tyr |