Canonical Allele Identifier: CA2190336641

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168288G= , CM000677.2:g.80168288G=	GRCh38
NC_000015.9:g.80460630G= , CM000677.1:g.80460630G=	GRCh37
NC_000015.8:g.78247685G=	NCBI36
NG_012833.1:g.20290G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.767G=
ENST00000684569.1:n.623G=
ENST00000561421.6:c.578G= MANE Select	ENSP00000453347.2:p.Cys193=
ENST00000646551.1:n.2205G=
ENST00000261755.9:c.578G=	ENSP00000261755.5:p.Cys193=
ENST00000407106.5:c.578G=	ENSP00000385080.1:p.Cys193=
ENST00000539156.5:c.368G=	ENSP00000454271.1:p.Cys123=
ENST00000558514.1:n.124G=
ENST00000558627.1:n.506G=
ENST00000561421.5:c.578G=	ENSP00000453347.1:p.Cys193=
NM_000137.2:c.578G=	NP_000128.1:p.Cys193=
XM_024449872.1:c.578G=	XP_024305640.1:p.Cys193=
NM_000137.4:c.578G= MANE Select	NP_000128.1:p.Cys193=
NM_001374377.1:c.578G=	NP_001361306.1:p.Cys193=
NM_001374380.1:c.578G=	NP_001361309.1:p.Cys193=