Linked Data
ClinVar Variation Id:
1524465
ClinVar RCV Id:
RCV002031740
dbSNP Id:
rs145281193
ExAC:
3:43732512 T / A
gnomAD v2:
3-43732512-T-A
gnomAD v3:
3-43691020-T-A
gnomAD v4:
3-43691020-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43691020T>A , CM000665.2:g.43691020T>A | GRCh38 |
| NC_000003.11:g.43732512T>A , CM000665.1:g.43732512T>A | GRCh37 |
| NC_000003.10:g.43707516T>A | NCBI36 |
| NG_007090.3:g.5138T>A | |
| NG_007090.5:g.5151T>A | |
| NG_028216.2:g.5575A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013894.3:c.28T>A (ABHD5) | ENSP00000013894.2:p.Ser10Thr | |
| ENST00000458276.7:c.28T>A (ABHD5) | ENSP00000390849.3:p.Ser10Thr | |
| ENST00000643140.1:c.28T>A (ABHD5) | ENSP00000495588.1:p.Ser10Thr | |
| ENST00000643477.1:c.28T>A (ABHD5) | ENSP00000496220.1:p.Ser10Thr | |
| ENST00000643500.1:c.28T>A (ABHD5) | ENSP00000494735.1:p.Ser10Thr | |
| ENST00000643520.1:n.95+818T>A (ABHD5) | ||
| ENST00000644371.2:c.28T>A (ABHD5) MANE Select | ENSP00000495778.1:p.Ser10Thr | |
| ENST00000646378.1:c.28T>A (ABHD5) | ENSP00000495826.1:p.Ser10Thr | |
| ENST00000646799.1:c.28T>A (ABHD5) | ENSP00000494829.1:p.Ser10Thr | |
| ENST00000649763.1:c.28T>A (ABHD5) | ENSP00000497701.1:p.Ser10Thr | |
| ENST00000013894.2:c.28T>A (ABHD5) | ENSP00000013894.2:p.Ser10Thr | |
| ENST00000413397.5:c.-12+497A>T (ANO10) | ENSP00000399103.1:n.-12+497A>T | |
| ENST00000439141.5:c.-106+497A>T (ANO10) | ENSP00000397360.1:n.-106+497A>T | |
| ENST00000456453.5:c.-77+310T>A (ABHD5) | ENSP00000391582.1:n.-77+310T>A | |
| ENST00000458276.6:c.28T>A (ABHD5) | ENSP00000390849.2:p.Ser10Thr | |
| ENST00000486764.1:n.129T>A (ABHD5) | ||
| ENST00000495772.1:n.56+497A>T (ANO10) | ||
| NM_016006.4:c.28T>A (ABHD5) | NP_057090.2:p.Ser10Thr | |
| XM_011533780.1:c.28T>A (ABHD5) | XP_011532082.1:p.Ser10Thr | |
| XM_011533883.1:c.-12+497A>T (ANO10) | XP_011532185.1:n.-12+497A>T | |
| XR_940447.1:n.85T>A (ABHD5) | ||
| NM_001346468.1:c.-12+497A>T (ANO10) | NP_001333397.1:n.-12+497A>T | |
| NM_001346469.1:c.-12+497A>T (ANO10) | NP_001333398.1:n.-12+497A>T | |
| NM_001355186.1:c.28T>A (ABHD5) | NP_001342115.1:p.Ser10Thr | |
| NM_001365650.1:c.28T>A (ABHD5) | NP_001352579.1:p.Ser10Thr | |
| NM_016006.5:c.28T>A (ABHD5) | NP_057090.2:p.Ser10Thr | |
| NR_158560.1:n.151T>A (ABHD5) | ||
| XM_017006717.2:c.-12+497A>T (ANO10) | XP_016862206.1:n.-12+497A>T | |
| NM_001355186.2:c.28T>A (ABHD5) | NP_001342115.1:p.Ser10Thr | |
| NM_016006.6:c.28T>A (ABHD5) MANE Select | NP_057090.2:p.Ser10Thr | |
| NM_001346468.2:c.-12+497A>T (ANO10) | NP_001333397.1:n.-12+497A>T | |
| NM_001346469.2:c.-12+497A>T (ANO10) | NP_001333398.1:n.-12+497A>T |