Linked Data
ClinVar Variation Id:
5351
ClinVar RCV Id:
RCV000005680
dbSNP Id:
rs104893676
ExAC:
3:43732503 G / A
gnomAD v2:
3-43732503-G-A
gnomAD v3:
3-43691011-G-A
gnomAD v4:
3-43691011-G-A
PubMed:
PMID:11590543
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43691011G>A , CM000665.2:g.43691011G>A | GRCh38 |
| NC_000003.11:g.43732503G>A , CM000665.1:g.43732503G>A | GRCh37 |
| NC_000003.10:g.43707507G>A | NCBI36 |
| NG_007090.3:g.5129G>A | |
| NG_007090.5:g.5142G>A | |
| NG_028216.2:g.5584C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000013894.3:c.19G>A (ABHD5) | ENSP00000013894.2:p.Glu7Lys | |
| ENST00000458276.7:c.19G>A (ABHD5) | ENSP00000390849.3:p.Glu7Lys | |
| ENST00000643140.1:c.19G>A (ABHD5) | ENSP00000495588.1:p.Glu7Lys | |
| ENST00000643477.1:c.19G>A (ABHD5) | ENSP00000496220.1:p.Glu7Lys | |
| ENST00000643500.1:c.19G>A (ABHD5) | ENSP00000494735.1:p.Glu7Lys | |
| ENST00000643520.1:n.95+809G>A (ABHD5) | ||
| ENST00000644371.2:c.19G>A (ABHD5) MANE Select | ENSP00000495778.1:p.Glu7Lys | |
| ENST00000646378.1:c.19G>A (ABHD5) | ENSP00000495826.1:p.Glu7Lys | |
| ENST00000646799.1:c.19G>A (ABHD5) | ENSP00000494829.1:p.Glu7Lys | |
| ENST00000649763.1:c.19G>A (ABHD5) | ENSP00000497701.1:p.Glu7Lys | |
| ENST00000013894.2:c.19G>A (ABHD5) | ENSP00000013894.2:p.Glu7Lys | |
| ENST00000413397.5:c.-12+506C>T (ANO10) | ENSP00000399103.1:n.-12+506C>T | |
| ENST00000439141.5:c.-106+506C>T (ANO10) | ENSP00000397360.1:n.-106+506C>T | |
| ENST00000456453.5:c.-77+301G>A (ABHD5) | ENSP00000391582.1:n.-77+301G>A | |
| ENST00000458276.6:c.19G>A (ABHD5) | ENSP00000390849.2:p.Glu7Lys | |
| ENST00000486764.1:n.120G>A (ABHD5) | ||
| ENST00000495772.1:n.56+506C>T (ANO10) | ||
| NM_016006.4:c.19G>A (ABHD5) | NP_057090.2:p.Glu7Lys | |
| XM_011533780.1:c.19G>A (ABHD5) | XP_011532082.1:p.Glu7Lys | |
| XM_011533883.1:c.-12+506C>T (ANO10) | XP_011532185.1:n.-12+506C>T | |
| XR_940447.1:n.76G>A (ABHD5) | ||
| NM_001346468.1:c.-12+506C>T (ANO10) | NP_001333397.1:n.-12+506C>T | |
| NM_001346469.1:c.-12+506C>T (ANO10) | NP_001333398.1:n.-12+506C>T | |
| NM_001355186.1:c.19G>A (ABHD5) | NP_001342115.1:p.Glu7Lys | |
| NM_001365650.1:c.19G>A (ABHD5) | NP_001352579.1:p.Glu7Lys | |
| NM_016006.5:c.19G>A (ABHD5) | NP_057090.2:p.Glu7Lys | |
| NR_158560.1:n.142G>A (ABHD5) | ||
| XM_017006717.2:c.-12+506C>T (ANO10) | XP_016862206.1:n.-12+506C>T | |
| NM_001355186.2:c.19G>A (ABHD5) | NP_001342115.1:p.Glu7Lys | |
| NM_016006.6:c.19G>A (ABHD5) MANE Select | NP_057090.2:p.Glu7Lys | |
| NM_001346468.2:c.-12+506C>T (ANO10) | NP_001333397.1:n.-12+506C>T | |
| NM_001346469.2:c.-12+506C>T (ANO10) | NP_001333398.1:n.-12+506C>T |