Linked Data
ClinVar Variation Id:
265755
dbSNP Id:
rs532178791
ExAC:
3:132384674 A / G
gnomAD v2:
3-132384674-A-G
gnomAD v3:
3-132665830-A-G
gnomAD v4:
3-132665830-A-G
PubMed:
PMID:27545681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132665830A>G , CM000665.2:g.132665830A>G | GRCh38 |
| NC_000003.11:g.132384674A>G , CM000665.1:g.132384674A>G | GRCh37 |
| NC_000003.10:g.133867364A>G | NCBI36 |
| NG_052968.1:g.16385A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683741.1:c.340A>G (UBA5) | ENSP00000507396.1:p.Met114Val | |
| ENST00000356232.10:c.169A>G (UBA5) MANE Select | ENSP00000348565.4:p.Met57Val | |
| ENST00000264991.8:c.1A>G (UBA5) | ENSP00000264991.4:p.Met1Val | |
| ENST00000356232.8:c.169A>G (UBA5) | ENSP00000348565.4:p.Met57Val | |
| ENST00000464068.5:c.28-2988A>G (UBA5) | ENSP00000420055.1:n.28-2988A>G | |
| ENST00000464101.2:n.364A>G (UBA5) | ||
| ENST00000468022.5:c.1A>G (UBA5) | ENSP00000418569.1:p.Met1Val | |
| ENST00000471702.2:c.*1980+16084T>C (NPHP3-ACAD11) | ENSP00000419763.1:n.*1980+16084T>C | |
| ENST00000473651.5:c.169A>G (UBA5) | ENSP00000424984.1:p.Met57Val | |
| ENST00000489361.1:c.1A>G (UBA5) | ENSP00000417905.1:p.Met1Val | |
| ENST00000493720.6:c.169A>G (UBA5) | ENSP00000417879.2:p.Met57Val | |
| ENST00000494238.6:c.1A>G (UBA5) | ENSP00000418807.2:p.Met1Val | |
| ENST00000505777.5:c.162-2988A>G (UBA5) | ENSP00000427233.1:n.162-2988A>G | |
| ENST00000632629.1:c.636+16084T>C (NPHP3-ACAD11) | ||
| NM_024818.3:c.169A>G (UBA5) | NP_079094.1:p.Met57Val | |
| NM_198329.2:c.1A>G (UBA5) | NP_938143.1:p.Met1Val | |
| NR_037804.1:n.3995+16084T>C (NPHP3-ACAD11) | ||
| XM_006713752.2:c.-39-2988A>G (UBA5) | XP_006713815.1:n.-39-2988A>G | |
| XM_011513184.1:c.1A>G (UBA5) | XP_011511486.1:p.Met1Val | |
| XM_011513185.1:c.28-2988A>G (UBA5) | XP_011511487.1:n.28-2988A>G | |
| NM_001320210.1:c.1A>G (UBA5) | NP_001307139.1:p.Met1Val | |
| NM_001321238.1:c.28-2988A>G (UBA5) | NP_001308167.1:n.28-2988A>G | |
| NM_001321239.1:c.-39-2988A>G (UBA5) | NP_001308168.1:n.-39-2988A>G | |
| NM_024818.4:c.169A>G (UBA5) | NP_079094.1:p.Met57Val | |
| NM_198329.3:c.1A>G (UBA5) | NP_938143.1:p.Met1Val | |
| XR_001740272.1:n.771A>G (UBA5) | ||
| NM_024818.5:c.169A>G (UBA5) | NP_079094.1:p.Met57Val | |
| NM_001320210.2:c.1A>G (UBA5) | NP_001307139.1:p.Met1Val | |
| NM_001321238.2:c.28-2988A>G (UBA5) | NP_001308167.1:n.28-2988A>G | |
| NM_024818.6:c.169A>G (UBA5) MANE Select | NP_079094.1:p.Met57Val | |
| NM_198329.4:c.1A>G (UBA5) | NP_938143.1:p.Met1Val |