Canonical Allele Identifier: CA1360917126

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717682C= , CM000665.2:g.43717682C=	GRCh38
NC_000003.11:g.43759174C= , CM000665.1:g.43759174C=	GRCh37
NC_000003.10:g.43734178C=	NCBI36
NG_007090.3:g.31800C=
NG_007090.5:g.31813C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-84C=
ENST00000454293.2:c.662C=	ENSP00000412014.2:p.Ala221=
ENST00000458276.7:c.774-761C=	ENSP00000390849.3:n.774-761C=
ENST00000463153.2:c.12C=
ENST00000642351.1:c.662C=	ENSP00000494478.1:p.Ala221=
ENST00000643140.1:c.*147C=	ENSP00000495588.1:n.*147C=
ENST00000643477.1:c.*246C=	ENSP00000496220.1:n.*246C=
ENST00000643500.1:c.673C=	ENSP00000494735.1:p.Leu225=
ENST00000643520.1:n.951C=
ENST00000644371.2:c.785C= MANE Select	ENSP00000495778.1:p.Ala262=
ENST00000646378.1:c.*835C=	ENSP00000495826.1:n.*835C=
ENST00000646799.1:c.*248-761C=	ENSP00000494829.1:n.*248-761C=
ENST00000649763.1:c.785C=	ENSP00000497701.1:p.Ala262=
ENST00000413300.1:c.270-84C=	ENSP00000392159.1:n.270-84C=
ENST00000458276.6:c.785C=	ENSP00000390849.2:p.Ala262=
ENST00000463153.1:n.15C=
NM_016006.4:c.785C=	NP_057090.2:p.Ala262=
XM_011533779.1:c.662C=	XP_011532081.1:p.Ala221=
XM_011533780.1:c.774-761C=	XP_011532082.1:n.774-761C=
XR_940447.1:n.730C=
NM_001355186.1:c.785C=	NP_001342115.1:p.Ala262=
NM_001365649.1:c.662C=	NP_001352578.1:p.Ala221=
NM_001365650.1:c.774-761C=	NP_001352579.1:n.774-761C=
NM_016006.5:c.785C=	NP_057090.2:p.Ala262=
NR_158560.1:n.796C=
NM_001355186.2:c.785C=	NP_001342115.1:p.Ala262=
NM_016006.6:c.785C= MANE Select	NP_057090.2:p.Ala262=