Canonical Allele Identifier: CA1360917123

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717677G= , CM000665.2:g.43717677G=	GRCh38
NC_000003.11:g.43759169G= , CM000665.1:g.43759169G=	GRCh37
NC_000003.10:g.43734173G=	NCBI36
NG_007090.3:g.31795G=
NG_007090.5:g.31808G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-89G=
ENST00000454293.2:c.657G=	ENSP00000412014.2:p.Glu219=
ENST00000458276.7:c.774-766G=	ENSP00000390849.3:n.774-766G=
ENST00000463153.2:c.7G=
ENST00000642351.1:c.657G=	ENSP00000494478.1:p.Glu219=
ENST00000643140.1:c.*142G=	ENSP00000495588.1:n.*142G=
ENST00000643477.1:c.*241G=	ENSP00000496220.1:n.*241G=
ENST00000643500.1:c.668G=	ENSP00000494735.1:p.Arg223=
ENST00000643520.1:n.946G=
ENST00000644371.2:c.780G= MANE Select	ENSP00000495778.1:p.Glu260=
ENST00000646378.1:c.*830G=	ENSP00000495826.1:n.*830G=
ENST00000646799.1:c.*248-766G=	ENSP00000494829.1:n.*248-766G=
ENST00000649763.1:c.780G=	ENSP00000497701.1:p.Glu260=
ENST00000413300.1:c.270-89G=	ENSP00000392159.1:n.270-89G=
ENST00000458276.6:c.780G=	ENSP00000390849.2:p.Glu260=
ENST00000463153.1:n.10G=
NM_016006.4:c.780G=	NP_057090.2:p.Glu260=
XM_011533779.1:c.657G=	XP_011532081.1:p.Glu219=
XM_011533780.1:c.774-766G=	XP_011532082.1:n.774-766G=
XR_940447.1:n.725G=
NM_001355186.1:c.780G=	NP_001342115.1:p.Glu260=
NM_001365649.1:c.657G=	NP_001352578.1:p.Glu219=
NM_001365650.1:c.774-766G=	NP_001352579.1:n.774-766G=
NM_016006.5:c.780G=	NP_057090.2:p.Glu260=
NR_158560.1:n.791G=
NM_001355186.2:c.780G=	NP_001342115.1:p.Glu260=
NM_016006.6:c.780G= MANE Select	NP_057090.2:p.Glu260=