Canonical Allele Identifier: CA1360917139

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43717723C= , CM000665.2:g.43717723C=	GRCh38
NC_000003.11:g.43759215C= , CM000665.1:g.43759215C=	GRCh37
NC_000003.10:g.43734219C=	NCBI36
NG_007090.3:g.31841C=
NG_007090.5:g.31854C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413300.2:c.268-43C=
ENST00000454293.2:c.703C=	ENSP00000412014.2:p.Pro235=
ENST00000458276.7:c.774-720C=	ENSP00000390849.3:n.774-720C=
ENST00000463153.2:c.53C=
ENST00000642351.1:c.703C=	ENSP00000494478.1:p.Pro235=
ENST00000643140.1:c.*188C=	ENSP00000495588.1:n.*188C=
ENST00000643477.1:c.*287C=	ENSP00000496220.1:n.*287C=
ENST00000643500.1:c.*27C=	ENSP00000494735.1:n.*27C=
ENST00000643520.1:n.992C=
ENST00000644371.2:c.826C= MANE Select	ENSP00000495778.1:p.Pro276=
ENST00000646378.1:c.*876C=	ENSP00000495826.1:n.*876C=
ENST00000646799.1:c.*248-720C=	ENSP00000494829.1:n.*248-720C=
ENST00000649763.1:c.826C=	ENSP00000497701.1:p.Pro276=
ENST00000413300.1:c.270-43C=	ENSP00000392159.1:n.270-43C=
ENST00000458276.6:c.826C=	ENSP00000390849.2:p.Pro276=
ENST00000463153.1:n.56C=
NM_016006.4:c.826C=	NP_057090.2:p.Pro276=
XM_011533779.1:c.703C=	XP_011532081.1:p.Pro235=
XM_011533780.1:c.774-720C=	XP_011532082.1:n.774-720C=
XR_940447.1:n.771C=
NM_001355186.1:c.826C=	NP_001342115.1:p.Pro276=
NM_001365649.1:c.703C=	NP_001352578.1:p.Pro235=
NM_001365650.1:c.774-720C=	NP_001352579.1:n.774-720C=
NM_016006.5:c.826C=	NP_057090.2:p.Pro276=
NR_158560.1:n.837C=
NM_001355186.2:c.826C=	NP_001342115.1:p.Pro276=
NM_016006.6:c.826C= MANE Select	NP_057090.2:p.Pro276=