Canonical Allele Identifier: CA10618493
Gene: ABHD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 345224
ClinVar RCV Id: RCV000365407
dbSNP Id: rs886058488
gnomAD v2: 3-43759295-C-A
gnomAD v4: 3-43717803-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43717803C>A , CM000665.2:g.43717803C>A GRCh38
NC_000003.11:g.43759295C>A , CM000665.1:g.43759295C>A GRCh37
NC_000003.10:g.43734299C>A NCBI36
NG_007090.3:g.31921C>A
NG_007090.5:g.31934C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000413300.2:c.305C>A
ENST00000454293.2:c.783C>A ENSP00000412014.2:p.Gly261=
ENST00000458276.7:c.774-640C>A ENSP00000390849.3:n.774-640C>A
ENST00000463153.2:c.133C>A
ENST00000642351.1:c.783C>A ENSP00000494478.1:p.Gly261=
ENST00000643140.1:c.*268C>A ENSP00000495588.1:n.*268C>A
ENST00000643477.1:c.*367C>A ENSP00000496220.1:n.*367C>A
ENST00000643500.1:c.*107C>A ENSP00000494735.1:n.*107C>A
ENST00000643520.1:n.1072C>A
ENST00000644371.2:c.906C>A MANE Select ENSP00000495778.1:p.Gly302=
ENST00000646378.1:c.*956C>A ENSP00000495826.1:n.*956C>A
ENST00000646799.1:c.*248-640C>A ENSP00000494829.1:n.*248-640C>A
ENST00000649763.1:c.906C>A ENSP00000497701.1:p.Gly302=
ENST00000413300.1:c.307C>A ENSP00000392159.1:p.Gln103Lys
ENST00000458276.6:c.906C>A ENSP00000390849.2:p.Gly302=
ENST00000463153.1:n.136C>A
NM_016006.4:c.906C>A NP_057090.2:p.Gly302=
XM_011533779.1:c.783C>A XP_011532081.1:p.Gly261=
XM_011533780.1:c.774-640C>A XP_011532082.1:n.774-640C>A
XR_940447.1:n.851C>A
NM_001355186.1:c.906C>A NP_001342115.1:p.Gly302=
NM_001365649.1:c.783C>A NP_001352578.1:p.Gly261=
NM_001365650.1:c.774-640C>A NP_001352579.1:n.774-640C>A
NM_016006.5:c.906C>A NP_057090.2:p.Gly302=
NR_158560.1:n.917C>A
NM_001355186.2:c.906C>A NP_001342115.1:p.Gly302=
NM_016006.6:c.906C>A MANE Select NP_057090.2:p.Gly302=