Canonical Allele Identifier: CA352347681

Gene: ABHD5

Linked Data

• dbSNP Id: rs1200098841
• gnomAD v2: 3-43759284-T-C
• gnomAD v4: 3-43717792-T-C
• MyVariant Identifiers: chr3:g.43759284T>C (hg19) ; chr3:g.43717792T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717792T>C , CM000665.2:g.43717792T>C	GRCh38
NC_000003.11:g.43759284T>C , CM000665.1:g.43759284T>C	GRCh37
NC_000003.10:g.43734288T>C	NCBI36
NG_007090.3:g.31910T>C
NG_007090.5:g.31923T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.294T>C
ENST00000454293.2:c.772T>C	ENSP00000412014.2:p.Cys258Arg
ENST00000458276.7:c.774-651T>C	ENSP00000390849.3:n.774-651T>C
ENST00000463153.2:c.122T>C
ENST00000642351.1:c.772T>C	ENSP00000494478.1:p.Cys258Arg
ENST00000643140.1:c.*257T>C	ENSP00000495588.1:n.*257T>C
ENST00000643477.1:c.*356T>C	ENSP00000496220.1:n.*356T>C
ENST00000643500.1:c.*96T>C	ENSP00000494735.1:n.*96T>C
ENST00000643520.1:n.1061T>C
ENST00000644371.2:c.895T>C MANE Select	ENSP00000495778.1:p.Cys299Arg
ENST00000646378.1:c.*945T>C	ENSP00000495826.1:n.*945T>C
ENST00000646799.1:c.*248-651T>C	ENSP00000494829.1:n.*248-651T>C
ENST00000649763.1:c.895T>C	ENSP00000497701.1:p.Cys299Arg
ENST00000413300.1:c.296T>C	ENSP00000392159.1:p.Leu99Pro
ENST00000458276.6:c.895T>C	ENSP00000390849.2:p.Cys299Arg
ENST00000463153.1:n.125T>C
NM_016006.4:c.895T>C	NP_057090.2:p.Cys299Arg
XM_011533779.1:c.772T>C	XP_011532081.1:p.Cys258Arg
XM_011533780.1:c.774-651T>C	XP_011532082.1:n.774-651T>C
XR_940447.1:n.840T>C
NM_001355186.1:c.895T>C	NP_001342115.1:p.Cys299Arg
NM_001365649.1:c.772T>C	NP_001352578.1:p.Cys258Arg
NM_001365650.1:c.774-651T>C	NP_001352579.1:n.774-651T>C
NM_016006.5:c.895T>C	NP_057090.2:p.Cys299Arg
NR_158560.1:n.906T>C
NM_001355186.2:c.895T>C	NP_001342115.1:p.Cys299Arg
NM_016006.6:c.895T>C MANE Select	NP_057090.2:p.Cys299Arg