Canonical Allele Identifier: CA352347485

Gene: ABHD5

Linked Data

• gnomAD v4: 3-43717711-T-C
• MyVariant Identifiers: chr3:g.43759203T>C (hg19) ; chr3:g.43717711T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717711T>C , CM000665.2:g.43717711T>C	GRCh38
NC_000003.11:g.43759203T>C , CM000665.1:g.43759203T>C	GRCh37
NC_000003.10:g.43734207T>C	NCBI36
NG_007090.3:g.31829T>C
NG_007090.5:g.31842T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413300.2:c.268-55T>C
ENST00000454293.2:c.691T>C	ENSP00000412014.2:p.Trp231Arg
ENST00000458276.7:c.774-732T>C	ENSP00000390849.3:n.774-732T>C
ENST00000463153.2:c.41T>C
ENST00000642351.1:c.691T>C	ENSP00000494478.1:p.Trp231Arg
ENST00000643140.1:c.*176T>C	ENSP00000495588.1:n.*176T>C
ENST00000643477.1:c.*275T>C	ENSP00000496220.1:n.*275T>C
ENST00000643500.1:c.*15T>C	ENSP00000494735.1:n.*15T>C
ENST00000643520.1:n.980T>C
ENST00000644371.2:c.814T>C MANE Select	ENSP00000495778.1:p.Trp272Arg
ENST00000646378.1:c.*864T>C	ENSP00000495826.1:n.*864T>C
ENST00000646799.1:c.*248-732T>C	ENSP00000494829.1:n.*248-732T>C
ENST00000649763.1:c.814T>C	ENSP00000497701.1:p.Trp272Arg
ENST00000413300.1:c.270-55T>C	ENSP00000392159.1:n.270-55T>C
ENST00000458276.6:c.814T>C	ENSP00000390849.2:p.Trp272Arg
ENST00000463153.1:n.44T>C
NM_016006.4:c.814T>C	NP_057090.2:p.Trp272Arg
XM_011533779.1:c.691T>C	XP_011532081.1:p.Trp231Arg
XM_011533780.1:c.774-732T>C	XP_011532082.1:n.774-732T>C
XR_940447.1:n.759T>C
NM_001355186.1:c.814T>C	NP_001342115.1:p.Trp272Arg
NM_001365649.1:c.691T>C	NP_001352578.1:p.Trp231Arg
NM_001365650.1:c.774-732T>C	NP_001352579.1:n.774-732T>C
NM_016006.5:c.814T>C	NP_057090.2:p.Trp272Arg
NR_158560.1:n.825T>C
NM_001355186.2:c.814T>C	NP_001342115.1:p.Trp272Arg
NM_016006.6:c.814T>C MANE Select	NP_057090.2:p.Trp272Arg