Canonical Allele Identifier: CA1360918454

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720760C= , CM000665.2:g.43720760C=	GRCh38
NC_000003.11:g.43762252C= , CM000665.1:g.43762252C=	GRCh37
NC_000003.10:g.43737256C=	NCBI36
NG_007090.3:g.34878C=
NG_007090.5:g.34891C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2199C=	ENSP00000412014.2:n.*29+2199C=
ENST00000463153.2:c.306+2199C=
ENST00000643477.1:c.*2739C=	ENSP00000496220.1:n.*2739C=
ENST00000644371.2:c.*2228C= MANE Select	ENSP00000495778.1:n.*2228C=
ENST00000649763.1:c.*29+2199C=	ENSP00000497701.1:n.*29+2199C=
ENST00000463153.1:n.309+2199C=
NM_016006.4:c.*2228C=	NP_057090.2:n.*2228C=
XM_011533779.1:c.*2228C=	XP_011532081.1:n.*2228C=
XM_011533780.1:c.*2254C=	XP_011532082.1:n.*2254C=
XR_940447.1:n.3223C=
NM_001355186.1:c.*29+2199C=	NP_001342115.1:n.*29+2199C=
NM_001365649.1:c.*2228C=	NP_001352578.1:n.*2228C=
NM_001365650.1:c.*2254C=	NP_001352579.1:n.*2254C=
NM_016006.5:c.*2228C=	NP_057090.2:n.*2228C=
NR_158560.1:n.3289C=
NM_001355186.2:c.*29+2199C=	NP_001342115.1:n.*29+2199C=
NM_016006.6:c.*2228C= MANE Select	NP_057090.2:n.*2228C=