Canonical Allele Identifier: CA2190334027

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162546C= , CM000677.2:g.80162546C=	GRCh38
NC_000015.9:g.80454888C= , CM000677.1:g.80454888C=	GRCh37
NC_000015.8:g.78241943C=	NCBI36
NG_012833.1:g.14548C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*182C=	ENSP00000507680.1:n.*182C=
ENST00000682012.1:n.530+210C=
ENST00000683593.1:n.2328C=
ENST00000684363.1:c.519C=	ENSP00000507314.1:n.519C=
ENST00000684569.1:n.500+210C=
ENST00000561421.6:c.455+210C= MANE Select	ENSP00000453347.2:n.455+210C=
ENST00000646551.1:n.1942+210C=
ENST00000261755.9:c.455+210C=	ENSP00000261755.5:n.455+210C=
ENST00000407106.5:c.455+210C=	ENSP00000385080.1:n.455+210C=
ENST00000537726.5:n.811C=
ENST00000539156.5:c.245+210C=	ENSP00000454271.1:n.245+210C=
ENST00000558022.5:c.455+210C=	ENSP00000453152.1:n.455+210C=
ENST00000558627.1:n.383+210C=
ENST00000558767.5:n.926C=
ENST00000561421.5:c.455+210C=	ENSP00000453347.1:n.455+210C=
NM_000137.2:c.455+210C=	NP_000128.1:n.455+210C=
XM_024449872.1:c.455+210C=	XP_024305640.1:n.455+210C=
NM_000137.4:c.455+210C= MANE Select	NP_000128.1:n.455+210C=
NM_001374377.1:c.455+210C=	NP_001361306.1:n.455+210C=
NM_001374380.1:c.455+210C=	NP_001361309.1:n.455+210C=