Linked Data
ClinVar Variation Id:
265754
ClinVar RCV Id:
RCV000254833
dbSNP Id:
rs886039761
gnomAD v4:
3-132670973-G-A
PubMed:
PMID:27545681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132670973G>A , CM000665.2:g.132670973G>A | GRCh38 |
| NC_000003.11:g.132389817G>A , CM000665.1:g.132389817G>A | GRCh37 |
| NC_000003.10:g.133872507G>A | NCBI36 |
| NG_052968.1:g.21528G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683741.1:c.674G>A (UBA5) | ENSP00000507396.1:p.Gly225Glu | |
| ENST00000356232.10:c.503G>A (UBA5) MANE Select | ENSP00000348565.4:p.Gly168Glu | |
| ENST00000264991.8:c.335G>A (UBA5) | ENSP00000264991.4:p.Gly112Glu | |
| ENST00000356232.8:c.503G>A (UBA5) | ENSP00000348565.4:p.Gly168Glu | |
| ENST00000464068.5:c.233G>A (UBA5) | ENSP00000420055.1:p.Gly78Glu | |
| ENST00000468227.5:n.1766G>A (UBA5) | ||
| ENST00000469158.1:n.292G>A (UBA5) | ||
| ENST00000471702.2:c.*1980+10941C>T (NPHP3-ACAD11) | ENSP00000419763.1:n.*1980+10941C>T | |
| ENST00000473651.5:c.503G>A (UBA5) | ENSP00000424984.1:p.Gly168Glu | |
| ENST00000493720.6:c.503G>A (UBA5) | ENSP00000417879.2:p.Gly168Glu | |
| ENST00000494238.6:c.335G>A (UBA5) | ENSP00000418807.2:p.Gly112Glu | |
| ENST00000505777.5:c.*172G>A (UBA5) | ENSP00000427233.1:n.*172G>A | |
| ENST00000632629.1:c.636+10941C>T (NPHP3-ACAD11) | ||
| NM_024818.3:c.503G>A (UBA5) | NP_079094.1:p.Gly168Glu | |
| NM_198329.2:c.335G>A (UBA5) | NP_938143.1:p.Gly112Glu | |
| NR_037804.1:n.3995+10941C>T (NPHP3-ACAD11) | ||
| XM_006713752.2:c.167G>A (UBA5) | XP_006713815.1:p.Gly56Glu | |
| XM_011513183.1:c.362G>A (UBA5) | XP_011511485.1:p.Gly121Glu | |
| XM_011513184.1:c.335G>A (UBA5) | XP_011511486.1:p.Gly112Glu | |
| XM_011513185.1:c.233G>A (UBA5) | XP_011511487.1:p.Gly78Glu | |
| NM_001320210.1:c.335G>A (UBA5) | NP_001307139.1:p.Gly112Glu | |
| NM_001321238.1:c.233G>A (UBA5) | NP_001308167.1:p.Gly78Glu | |
| NM_001321239.1:c.167G>A (UBA5) | NP_001308168.1:p.Gly56Glu | |
| NM_024818.4:c.503G>A (UBA5) | NP_079094.1:p.Gly168Glu | |
| NM_198329.3:c.335G>A (UBA5) | NP_938143.1:p.Gly112Glu | |
| XR_001740272.1:n.1105G>A (UBA5) | ||
| NM_024818.5:c.503G>A (UBA5) | NP_079094.1:p.Gly168Glu | |
| NM_001320210.2:c.335G>A (UBA5) | NP_001307139.1:p.Gly112Glu | |
| NM_001321238.2:c.233G>A (UBA5) | NP_001308167.1:p.Gly78Glu | |
| NM_024818.6:c.503G>A (UBA5) MANE Select | NP_079094.1:p.Gly168Glu | |
| NM_198329.4:c.335G>A (UBA5) | NP_938143.1:p.Gly112Glu |