Canonical Allele Identifier: CA1360907888

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43699361T= , CM000665.2:g.43699361T=	GRCh38
NC_000003.11:g.43740853T= , CM000665.1:g.43740853T=	GRCh37
NC_000003.10:g.43715857T=	NCBI36
NG_007090.3:g.13479T=
NG_007090.5:g.13492T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013894.3:c.133T=	ENSP00000013894.2:p.Ter45=
ENST00000454293.2:c.10T=	ENSP00000412014.2:p.Cys4=
ENST00000458276.7:c.133T=	ENSP00000390849.3:p.Cys45=
ENST00000642351.1:c.10T=	ENSP00000494478.1:p.Cys4=
ENST00000643140.1:c.133T=	ENSP00000495588.1:p.Trp45=
ENST00000643477.1:c.133T=	ENSP00000496220.1:p.Tyr45=
ENST00000643500.1:c.133T=	ENSP00000494735.1:p.Cys45=
ENST00000643520.1:n.181T=
ENST00000644371.2:c.133T= MANE Select	ENSP00000495778.1:p.Cys45=
ENST00000646378.1:c.*183T=	ENSP00000495826.1:n.*183T=
ENST00000646799.1:c.133T=	ENSP00000494829.1:p.Trp45=
ENST00000649763.1:c.133T=	ENSP00000497701.1:p.Cys45=
ENST00000013894.2:c.133T=	ENSP00000013894.2:p.Ter45=
ENST00000454293.1:c.10T=	ENSP00000412014.1:p.Cys4=
ENST00000456453.5:c.10T=	ENSP00000391582.1:p.Cys4=
ENST00000458276.6:c.133T=	ENSP00000390849.2:p.Cys45=
ENST00000486764.1:n.234T=
NM_016006.4:c.133T=	NP_057090.2:p.Cys45=
XM_011533779.1:c.10T=	XP_011532081.1:p.Cys4=
XM_011533780.1:c.133T=	XP_011532082.1:p.Cys45=
XR_940447.1:n.190T=
NM_001355186.1:c.133T=	NP_001342115.1:p.Cys45=
NM_001365649.1:c.10T=	NP_001352578.1:p.Cys4=
NM_001365650.1:c.133T=	NP_001352579.1:p.Cys45=
NM_016006.5:c.133T=	NP_057090.2:p.Cys45=
NR_158560.1:n.256T=
NM_001355186.2:c.133T=	NP_001342115.1:p.Cys45=
NM_016006.6:c.133T= MANE Select	NP_057090.2:p.Cys45=