Canonical Allele Identifier: CA1360918448

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43720740C= , CM000665.2:g.43720740C=	GRCh38
NC_000003.11:g.43762232C= , CM000665.1:g.43762232C=	GRCh37
NC_000003.10:g.43737236C=	NCBI36
NG_007090.3:g.34858C=
NG_007090.5:g.34871C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454293.2:c.*29+2179C=	ENSP00000412014.2:n.*29+2179C=
ENST00000463153.2:c.306+2179C=
ENST00000643477.1:c.*2719C=	ENSP00000496220.1:n.*2719C=
ENST00000644371.2:c.*2208C= MANE Select	ENSP00000495778.1:n.*2208C=
ENST00000649763.1:c.*29+2179C=	ENSP00000497701.1:n.*29+2179C=
ENST00000463153.1:n.309+2179C=
NM_016006.4:c.*2208C=	NP_057090.2:n.*2208C=
XM_011533779.1:c.*2208C=	XP_011532081.1:n.*2208C=
XM_011533780.1:c.*2234C=	XP_011532082.1:n.*2234C=
XR_940447.1:n.3203C=
NM_001355186.1:c.*29+2179C=	NP_001342115.1:n.*29+2179C=
NM_001365649.1:c.*2208C=	NP_001352578.1:n.*2208C=
NM_001365650.1:c.*2234C=	NP_001352579.1:n.*2234C=
NM_016006.5:c.*2208C=	NP_057090.2:n.*2208C=
NR_158560.1:n.3269C=
NM_001355186.2:c.*29+2179C=	NP_001342115.1:n.*29+2179C=
NM_016006.6:c.*2208C= MANE Select	NP_057090.2:n.*2208C=