Canonical Allele Identifier: CA2190312268

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80181120A= , CM000677.2:g.80181120A=	GRCh38
NC_000015.9:g.80473462A= , CM000677.1:g.80473462A=	GRCh37
NC_000015.8:g.78260517A=	NCBI36
NG_012833.1:g.33122A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000137.4:c.1141A= MANE Select	NP_000128.1:p.Arg381=
ENST00000561421.6:c.1141A= MANE Select	ENSP00000453347.2:p.Arg381=
NM_000137.2:c.1141A=	NP_000128.1:p.Arg381=
NM_001374377.1:c.1141A=	NP_001361306.1:p.Arg381=
NM_001374380.1:c.1141A=	NP_001361309.1:p.Arg381=
ENST00000261755.9:c.1141A=	ENSP00000261755.5:p.Arg381=
ENST00000407106.5:c.1141A=	ENSP00000385080.1:p.Arg381=
ENST00000539156.5:c.931A=	ENSP00000454271.1:p.Arg311=
ENST00000559217.1:n.358A=
ENST00000561421.5:c.1141A=	ENSP00000453347.1:p.Arg381=
ENST00000646551.1:n.2755A=
ENST00000682012.1:n.1230A=
XM_024449872.1:c.1141A=	XP_024305640.1:p.Arg381=