Canonical Allele Identifier: CA1360918481

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720816C= , CM000665.2:g.43720816C=	GRCh38
NC_000003.11:g.43762308C= , CM000665.1:g.43762308C=	GRCh37
NC_000003.10:g.43737312C=	NCBI36
NG_007090.3:g.34934C=
NG_007090.5:g.34947C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2255C=	ENSP00000412014.2:n.*29+2255C=
ENST00000463153.2:c.306+2255C=
ENST00000644371.2:c.*2284C= MANE Select	ENSP00000495778.1:n.*2284C=
ENST00000649763.1:c.*29+2255C=	ENSP00000497701.1:n.*29+2255C=
ENST00000463153.1:n.309+2255C=
NM_016006.4:c.*2284C=	NP_057090.2:n.*2284C=
XM_011533779.1:c.*2284C=	XP_011532081.1:n.*2284C=
XM_011533780.1:c.*2310C=	XP_011532082.1:n.*2310C=
XR_940447.1:n.3279C=
NM_001355186.1:c.*29+2255C=	NP_001342115.1:n.*29+2255C=
NM_001365649.1:c.*2284C=	NP_001352578.1:n.*2284C=
NM_001365650.1:c.*2310C=	NP_001352579.1:n.*2310C=
NM_016006.5:c.*2284C=	NP_057090.2:n.*2284C=
NR_158560.1:n.3345C=
NM_001355186.2:c.*29+2255C=	NP_001342115.1:n.*29+2255C=
NM_016006.6:c.*2284C= MANE Select	NP_057090.2:n.*2284C=