Canonical Allele Identifier: CA1360918462

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720781T= , CM000665.2:g.43720781T=	GRCh38
NC_000003.11:g.43762273T= , CM000665.1:g.43762273T=	GRCh37
NC_000003.10:g.43737277T=	NCBI36
NG_007090.3:g.34899T=
NG_007090.5:g.34912T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2220T=	ENSP00000412014.2:n.*29+2220T=
ENST00000463153.2:c.306+2220T=
ENST00000643477.1:c.*2760T=	ENSP00000496220.1:n.*2760T=
ENST00000644371.2:c.*2249T= MANE Select	ENSP00000495778.1:n.*2249T=
ENST00000649763.1:c.*29+2220T=	ENSP00000497701.1:n.*29+2220T=
ENST00000463153.1:n.309+2220T=
NM_016006.4:c.*2249T=	NP_057090.2:n.*2249T=
XM_011533779.1:c.*2249T=	XP_011532081.1:n.*2249T=
XM_011533780.1:c.*2275T=	XP_011532082.1:n.*2275T=
XR_940447.1:n.3244T=
NM_001355186.1:c.*29+2220T=	NP_001342115.1:n.*29+2220T=
NM_001365649.1:c.*2249T=	NP_001352578.1:n.*2249T=
NM_001365650.1:c.*2275T=	NP_001352579.1:n.*2275T=
NM_016006.5:c.*2249T=	NP_057090.2:n.*2249T=
NR_158560.1:n.3310T=
NM_001355186.2:c.*29+2220T=	NP_001342115.1:n.*29+2220T=
NM_016006.6:c.*2249T= MANE Select	NP_057090.2:n.*2249T=