Canonical Allele Identifier: CA2665310931
Gene: ABHD5 HGNC NCBI

Linked Data

gnomAD v4: 3-43717650-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43717650A>G , CM000665.2:g.43717650A>G GRCh38
NC_000003.11:g.43759142A>G , CM000665.1:g.43759142A>G GRCh37
NC_000003.10:g.43734146A>G NCBI36
NG_007090.3:g.31768A>G
NG_007090.5:g.31781A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413300.2:c.268-116A>G
ENST00000454293.2:c.651-21A>G ENSP00000412014.2:n.651-21A>G
ENST00000458276.7:c.774-793A>G ENSP00000390849.3:n.774-793A>G
ENST00000642351.1:c.651-21A>G ENSP00000494478.1:n.651-21A>G
ENST00000643140.1:c.*136-21A>G ENSP00000495588.1:n.*136-21A>G
ENST00000643477.1:c.*235-21A>G ENSP00000496220.1:n.*235-21A>G
ENST00000643500.1:c.662-21A>G ENSP00000494735.1:n.662-21A>G
ENST00000643520.1:n.940-21A>G
ENST00000644371.2:c.774-21A>G MANE Select ENSP00000495778.1:n.774-21A>G
ENST00000646378.1:c.*824-21A>G ENSP00000495826.1:n.*824-21A>G
ENST00000646799.1:c.*248-793A>G ENSP00000494829.1:n.*248-793A>G
ENST00000649763.1:c.774-21A>G ENSP00000497701.1:n.774-21A>G
ENST00000413300.1:c.270-116A>G ENSP00000392159.1:n.270-116A>G
ENST00000458276.6:c.774-21A>G ENSP00000390849.2:n.774-21A>G
NM_016006.4:c.774-21A>G NP_057090.2:n.774-21A>G
XM_011533779.1:c.651-21A>G XP_011532081.1:n.651-21A>G
XM_011533780.1:c.774-793A>G XP_011532082.1:n.774-793A>G
XR_940447.1:n.719-21A>G
NM_001355186.1:c.774-21A>G NP_001342115.1:n.774-21A>G
NM_001365649.1:c.651-21A>G NP_001352578.1:n.651-21A>G
NM_001365650.1:c.774-793A>G NP_001352579.1:n.774-793A>G
NM_016006.5:c.774-21A>G NP_057090.2:n.774-21A>G
NR_158560.1:n.785-21A>G
NM_001355186.2:c.774-21A>G NP_001342115.1:n.774-21A>G
NM_016006.6:c.774-21A>G MANE Select NP_057090.2:n.774-21A>G