Canonical Allele Identifier: CA1360917156

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717759A= , CM000665.2:g.43717759A=	GRCh38
NC_000003.11:g.43759251A= , CM000665.1:g.43759251A=	GRCh37
NC_000003.10:g.43734255A=	NCBI36
NG_007090.3:g.31877A=
NG_007090.5:g.31890A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-7A=
ENST00000454293.2:c.739A=	ENSP00000412014.2:p.Ile247=
ENST00000458276.7:c.774-684A=	ENSP00000390849.3:n.774-684A=
ENST00000463153.2:c.89A=
ENST00000642351.1:c.739A=	ENSP00000494478.1:p.Ile247=
ENST00000643140.1:c.*224A=	ENSP00000495588.1:n.*224A=
ENST00000643477.1:c.*323A=	ENSP00000496220.1:n.*323A=
ENST00000643500.1:c.*63A=	ENSP00000494735.1:n.*63A=
ENST00000643520.1:n.1028A=
ENST00000644371.2:c.862A= MANE Select	ENSP00000495778.1:p.Ile288=
ENST00000646378.1:c.*912A=	ENSP00000495826.1:n.*912A=
ENST00000646799.1:c.*248-684A=	ENSP00000494829.1:n.*248-684A=
ENST00000649763.1:c.862A=	ENSP00000497701.1:p.Ile288=
ENST00000413300.1:c.270-7A=	ENSP00000392159.1:n.270-7A=
ENST00000458276.6:c.862A=	ENSP00000390849.2:p.Ile288=
ENST00000463153.1:n.92A=
NM_016006.4:c.862A=	NP_057090.2:p.Ile288=
XM_011533779.1:c.739A=	XP_011532081.1:p.Ile247=
XM_011533780.1:c.774-684A=	XP_011532082.1:n.774-684A=
XR_940447.1:n.807A=
NM_001355186.1:c.862A=	NP_001342115.1:p.Ile288=
NM_001365649.1:c.739A=	NP_001352578.1:p.Ile247=
NM_001365650.1:c.774-684A=	NP_001352579.1:n.774-684A=
NM_016006.5:c.862A=	NP_057090.2:p.Ile288=
NR_158560.1:n.873A=
NM_001355186.2:c.862A=	NP_001342115.1:p.Ile288=
NM_016006.6:c.862A= MANE Select	NP_057090.2:p.Ile288=