Canonical Allele Identifier: CA1360917146

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717735C= , CM000665.2:g.43717735C=	GRCh38
NC_000003.11:g.43759227C= , CM000665.1:g.43759227C=	GRCh37
NC_000003.10:g.43734231C=	NCBI36
NG_007090.3:g.31853C=
NG_007090.5:g.31866C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-31C=
ENST00000454293.2:c.715C=	ENSP00000412014.2:p.Arg239=
ENST00000458276.7:c.774-708C=	ENSP00000390849.3:n.774-708C=
ENST00000463153.2:c.65C=
ENST00000642351.1:c.715C=	ENSP00000494478.1:p.Arg239=
ENST00000643140.1:c.*200C=	ENSP00000495588.1:n.*200C=
ENST00000643477.1:c.*299C=	ENSP00000496220.1:n.*299C=
ENST00000643500.1:c.*39C=	ENSP00000494735.1:n.*39C=
ENST00000643520.1:n.1004C=
ENST00000644371.2:c.838C= MANE Select	ENSP00000495778.1:p.Arg280=
ENST00000646378.1:c.*888C=	ENSP00000495826.1:n.*888C=
ENST00000646799.1:c.*248-708C=	ENSP00000494829.1:n.*248-708C=
ENST00000649763.1:c.838C=	ENSP00000497701.1:p.Arg280=
ENST00000413300.1:c.270-31C=	ENSP00000392159.1:n.270-31C=
ENST00000458276.6:c.838C=	ENSP00000390849.2:p.Arg280=
ENST00000463153.1:n.68C=
NM_016006.4:c.838C=	NP_057090.2:p.Arg280=
XM_011533779.1:c.715C=	XP_011532081.1:p.Arg239=
XM_011533780.1:c.774-708C=	XP_011532082.1:n.774-708C=
XR_940447.1:n.783C=
NM_001355186.1:c.838C=	NP_001342115.1:p.Arg280=
NM_001365649.1:c.715C=	NP_001352578.1:p.Arg239=
NM_001365650.1:c.774-708C=	NP_001352579.1:n.774-708C=
NM_016006.5:c.838C=	NP_057090.2:p.Arg280=
NR_158560.1:n.849C=
NM_001355186.2:c.838C=	NP_001342115.1:p.Arg280=
NM_016006.6:c.838C= MANE Select	NP_057090.2:p.Arg280=