Canonical Allele Identifier: CA117427
Gene: ABHD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 5353
ClinVar RCV Id: RCV000005682
dbSNP Id: rs28939078
gnomAD v2: 3-43759167-G-A
gnomAD v4: 3-43717675-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43717675G>A , CM000665.2:g.43717675G>A GRCh38
NC_000003.11:g.43759167G>A , CM000665.1:g.43759167G>A GRCh37
NC_000003.10:g.43734171G>A NCBI36
NG_007090.3:g.31793G>A
NG_007090.5:g.31806G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000413300.2:c.268-91G>A
ENST00000454293.2:c.655G>A ENSP00000412014.2:p.Glu219Lys
ENST00000458276.7:c.774-768G>A ENSP00000390849.3:n.774-768G>A
ENST00000463153.2:c.5G>A
ENST00000642351.1:c.655G>A ENSP00000494478.1:p.Glu219Lys
ENST00000643140.1:c.*140G>A ENSP00000495588.1:n.*140G>A
ENST00000643477.1:c.*239G>A ENSP00000496220.1:n.*239G>A
ENST00000643500.1:c.666G>A ENSP00000494735.1:p.Val222=
ENST00000643520.1:n.944G>A
ENST00000644371.2:c.778G>A MANE Select ENSP00000495778.1:p.Glu260Lys
ENST00000646378.1:c.*828G>A ENSP00000495826.1:n.*828G>A
ENST00000646799.1:c.*248-768G>A ENSP00000494829.1:n.*248-768G>A
ENST00000649763.1:c.778G>A ENSP00000497701.1:p.Glu260Lys
ENST00000413300.1:c.270-91G>A ENSP00000392159.1:n.270-91G>A
ENST00000458276.6:c.778G>A ENSP00000390849.2:p.Glu260Lys
ENST00000463153.1:n.8G>A
NM_016006.4:c.778G>A NP_057090.2:p.Glu260Lys
XM_011533779.1:c.655G>A XP_011532081.1:p.Glu219Lys
XM_011533780.1:c.774-768G>A XP_011532082.1:n.774-768G>A
XR_940447.1:n.723G>A
NM_001355186.1:c.778G>A NP_001342115.1:p.Glu260Lys
NM_001365649.1:c.655G>A NP_001352578.1:p.Glu219Lys
NM_001365650.1:c.774-768G>A NP_001352579.1:n.774-768G>A
NM_016006.5:c.778G>A NP_057090.2:p.Glu260Lys
NR_158560.1:n.789G>A
NM_001355186.2:c.778G>A NP_001342115.1:p.Glu260Lys
NM_016006.6:c.778G>A MANE Select NP_057090.2:p.Glu260Lys