Canonical Allele Identifier: CA2190327675

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152942C= , CM000677.2:g.80152942C=	GRCh38
NC_000015.9:g.80445284C= , CM000677.1:g.80445284C=	GRCh37
NC_000015.8:g.78232339C=	NCBI36
NG_012833.1:g.4944C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-113C=	ENSP00000507680.1:n.-113C=
ENST00000261755.9:c.-29-84C=	ENSP00000261755.5:n.-29-84C=
ENST00000407106.5:c.-30+37C=	ENSP00000385080.1:n.-30+37C=
ENST00000537726.5:n.54-84C=
ENST00000558022.5:c.-29-84C=	ENSP00000453152.1:n.-29-84C=
ENST00000558767.5:n.149C=
ENST00000561369.1:n.51+37C=
ENST00000561421.5:c.-113C=	ENSP00000453347.1:n.-113C=
NM_000137.2:c.-113C=	NP_000128.1:n.-113C=
XM_024449872.1:c.-30+37C=	XP_024305640.1:n.-30+37C=
NM_001374377.1:c.-30+37C=	NP_001361306.1:n.-30+37C=
NM_001374380.1:c.-29-84C=	NP_001361309.1:n.-29-84C=