Linked Data
ClinVar Variation Id:
345213
dbSNP Id:
rs117630969
ExAC:
3:43732466 C / T
gnomAD v2:
3-43732466-C-T
gnomAD v3:
3-43690974-C-T
gnomAD v4:
3-43690974-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43690974C>T , CM000665.2:g.43690974C>T | GRCh38 |
| NC_000003.11:g.43732466C>T , CM000665.1:g.43732466C>T | GRCh37 |
| NC_000003.10:g.43707470C>T | NCBI36 |
| NG_007090.3:g.5092C>T | |
| NG_007090.5:g.5105C>T | |
| NG_028216.2:g.5621G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013894.3:c.-19C>T (ABHD5) | ENSP00000013894.2:n.-19C>T | |
| ENST00000458276.7:c.-19C>T (ABHD5) | ENSP00000390849.3:n.-19C>T | |
| ENST00000643140.1:c.-19C>T (ABHD5) | ENSP00000495588.1:n.-19C>T | |
| ENST00000643477.1:c.-19C>T (ABHD5) | ENSP00000496220.1:n.-19C>T | |
| ENST00000643500.1:c.-19C>T (ABHD5) | ENSP00000494735.1:n.-19C>T | |
| ENST00000643520.1:n.95+772C>T (ABHD5) | ||
| ENST00000644371.2:c.-19C>T (ABHD5) MANE Select | ENSP00000495778.1:n.-19C>T | |
| ENST00000646378.1:c.-19C>T (ABHD5) | ENSP00000495826.1:n.-19C>T | |
| ENST00000649763.1:c.-19C>T (ABHD5) | ENSP00000497701.1:n.-19C>T | |
| ENST00000013894.2:c.-19C>T (ABHD5) | ENSP00000013894.2:n.-19C>T | |
| ENST00000413397.5:c.-12+543G>A (ANO10) | ENSP00000399103.1:n.-12+543G>A | |
| ENST00000439141.5:c.-106+543G>A (ANO10) | ENSP00000397360.1:n.-106+543G>A | |
| ENST00000456453.5:c.-77+264C>T (ABHD5) | ENSP00000391582.1:n.-77+264C>T | |
| ENST00000458276.6:c.-19C>T (ABHD5) | ENSP00000390849.2:n.-19C>T | |
| ENST00000486764.1:n.83C>T (ABHD5) | ||
| ENST00000495772.1:n.56+543G>A (ANO10) | ||
| NM_016006.4:c.-19C>T (ABHD5) | NP_057090.2:n.-19C>T | |
| XM_011533780.1:c.-19C>T (ABHD5) | XP_011532082.1:n.-19C>T | |
| XM_011533883.1:c.-12+543G>A (ANO10) | XP_011532185.1:n.-12+543G>A | |
| XR_940447.1:n.39C>T (ABHD5) | ||
| NM_001346468.1:c.-12+543G>A (ANO10) | NP_001333397.1:n.-12+543G>A | |
| NM_001346469.1:c.-12+543G>A (ANO10) | NP_001333398.1:n.-12+543G>A | |
| NM_001355186.1:c.-19C>T (ABHD5) | NP_001342115.1:n.-19C>T | |
| NM_001365650.1:c.-19C>T (ABHD5) | NP_001352579.1:n.-19C>T | |
| NM_016006.5:c.-19C>T (ABHD5) | NP_057090.2:n.-19C>T | |
| NR_158560.1:n.105C>T (ABHD5) | ||
| XM_017006717.2:c.-12+543G>A (ANO10) | XP_016862206.1:n.-12+543G>A | |
| NM_001355186.2:c.-19C>T (ABHD5) | NP_001342115.1:n.-19C>T | |
| NM_016006.6:c.-19C>T (ABHD5) MANE Select | NP_057090.2:n.-19C>T | |
| NM_001346468.2:c.-12+543G>A (ANO10) | NP_001333397.1:n.-12+543G>A | |
| NM_001346469.2:c.-12+543G>A (ANO10) | NP_001333398.1:n.-12+543G>A |