Canonical Allele Identifier: CA1360917143

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717732C= , CM000665.2:g.43717732C=	GRCh38
NC_000003.11:g.43759224C= , CM000665.1:g.43759224C=	GRCh37
NC_000003.10:g.43734228C=	NCBI36
NG_007090.3:g.31850C=
NG_007090.5:g.31863C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-34C=
ENST00000454293.2:c.712C=	ENSP00000412014.2:p.Gln238=
ENST00000458276.7:c.774-711C=	ENSP00000390849.3:n.774-711C=
ENST00000463153.2:c.62C=
ENST00000642351.1:c.712C=	ENSP00000494478.1:p.Gln238=
ENST00000643140.1:c.*197C=	ENSP00000495588.1:n.*197C=
ENST00000643477.1:c.*296C=	ENSP00000496220.1:n.*296C=
ENST00000643500.1:c.*36C=	ENSP00000494735.1:n.*36C=
ENST00000643520.1:n.1001C=
ENST00000644371.2:c.835C= MANE Select	ENSP00000495778.1:p.Gln279=
ENST00000646378.1:c.*885C=	ENSP00000495826.1:n.*885C=
ENST00000646799.1:c.*248-711C=	ENSP00000494829.1:n.*248-711C=
ENST00000649763.1:c.835C=	ENSP00000497701.1:p.Gln279=
ENST00000413300.1:c.270-34C=	ENSP00000392159.1:n.270-34C=
ENST00000458276.6:c.835C=	ENSP00000390849.2:p.Gln279=
ENST00000463153.1:n.65C=
NM_016006.4:c.835C=	NP_057090.2:p.Gln279=
XM_011533779.1:c.712C=	XP_011532081.1:p.Gln238=
XM_011533780.1:c.774-711C=	XP_011532082.1:n.774-711C=
XR_940447.1:n.780C=
NM_001355186.1:c.835C=	NP_001342115.1:p.Gln279=
NM_001365649.1:c.712C=	NP_001352578.1:p.Gln238=
NM_001365650.1:c.774-711C=	NP_001352579.1:n.774-711C=
NM_016006.5:c.835C=	NP_057090.2:p.Gln279=
NR_158560.1:n.846C=
NM_001355186.2:c.835C=	NP_001342115.1:p.Gln279=
NM_016006.6:c.835C= MANE Select	NP_057090.2:p.Gln279=