Canonical Allele Identifier: CA2341485

Gene: ABHD5

Linked Data

• ClinVar Variation Id: 1899351
• ClinVar RCV Id: RCV002575430
• dbSNP Id: rs542974582
• ExAC: 3:43759241 G / A
• gnomAD v2: 3-43759241-G-A
• gnomAD v3: 3-43717749-G-A
• gnomAD v4: 3-43717749-G-A
• MyVariant Identifiers: chr3:g.43759241G>A (hg19) ; chr3:g.43717749G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717749G>A , CM000665.2:g.43717749G>A	GRCh38
NC_000003.11:g.43759241G>A , CM000665.1:g.43759241G>A	GRCh37
NC_000003.10:g.43734245G>A	NCBI36
NG_007090.3:g.31867G>A
NG_007090.5:g.31880G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-17G>A
ENST00000454293.2:c.729G>A	ENSP00000412014.2:p.Met243Ile
ENST00000458276.7:c.774-694G>A	ENSP00000390849.3:n.774-694G>A
ENST00000463153.2:c.79G>A
ENST00000642351.1:c.729G>A	ENSP00000494478.1:p.Met243Ile
ENST00000643140.1:c.*214G>A	ENSP00000495588.1:n.*214G>A
ENST00000643477.1:c.*313G>A	ENSP00000496220.1:n.*313G>A
ENST00000643500.1:c.*53G>A	ENSP00000494735.1:n.*53G>A
ENST00000643520.1:n.1018G>A
ENST00000644371.2:c.852G>A MANE Select	ENSP00000495778.1:p.Met284Ile
ENST00000646378.1:c.*902G>A	ENSP00000495826.1:n.*902G>A
ENST00000646799.1:c.*248-694G>A	ENSP00000494829.1:n.*248-694G>A
ENST00000649763.1:c.852G>A	ENSP00000497701.1:p.Met284Ile
ENST00000413300.1:c.270-17G>A	ENSP00000392159.1:n.270-17G>A
ENST00000458276.6:c.852G>A	ENSP00000390849.2:p.Met284Ile
ENST00000463153.1:n.82G>A
NM_016006.4:c.852G>A	NP_057090.2:p.Met284Ile
XM_011533779.1:c.729G>A	XP_011532081.1:p.Met243Ile
XM_011533780.1:c.774-694G>A	XP_011532082.1:n.774-694G>A
XR_940447.1:n.797G>A
NM_001355186.1:c.852G>A	NP_001342115.1:p.Met284Ile
NM_001365649.1:c.729G>A	NP_001352578.1:p.Met243Ile
NM_001365650.1:c.774-694G>A	NP_001352579.1:n.774-694G>A
NM_016006.5:c.852G>A	NP_057090.2:p.Met284Ile
NR_158560.1:n.863G>A
NM_001355186.2:c.852G>A	NP_001342115.1:p.Met284Ile
NM_016006.6:c.852G>A MANE Select	NP_057090.2:p.Met284Ile