Canonical Allele Identifier: CA1360918518

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720864C= , CM000665.2:g.43720864C=	GRCh38
NC_000003.11:g.43762356C= , CM000665.1:g.43762356C=	GRCh37
NC_000003.10:g.43737360C=	NCBI36
NG_007090.3:g.34982C=
NG_007090.5:g.34995C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2303C=	ENSP00000412014.2:n.*29+2303C=
ENST00000463153.2:c.306+2303C=
ENST00000644371.2:c.*2332C= MANE Select	ENSP00000495778.1:n.*2332C=
ENST00000649763.1:c.*29+2303C=	ENSP00000497701.1:n.*29+2303C=
ENST00000463153.1:n.309+2303C=
NM_016006.4:c.*2332C=	NP_057090.2:n.*2332C=
XM_011533779.1:c.*2332C=	XP_011532081.1:n.*2332C=
XM_011533780.1:c.*2358C=	XP_011532082.1:n.*2358C=
XR_940447.1:n.3327C=
NM_001355186.1:c.*29+2303C=	NP_001342115.1:n.*29+2303C=
NM_001365649.1:c.*2332C=	NP_001352578.1:n.*2332C=
NM_001365650.1:c.*2358C=	NP_001352579.1:n.*2358C=
NM_016006.5:c.*2332C=	NP_057090.2:n.*2332C=
NR_158560.1:n.3393C=
NM_001355186.2:c.*29+2303C=	NP_001342115.1:n.*29+2303C=
NM_016006.6:c.*2332C= MANE Select	NP_057090.2:n.*2332C=