Canonical Allele Identifier: CA2190327530

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152855G= , CM000677.2:g.80152855G=	GRCh38
NC_000015.9:g.80445197G= , CM000677.1:g.80445197G=	GRCh37
NC_000015.8:g.78232252G=	NCBI36
NG_012833.1:g.4857G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-200G=	ENSP00000507680.1:n.-200G=
ENST00000261755.9:c.-30+14G=	ENSP00000261755.5:n.-30+14G=
ENST00000407106.5:c.-80G=	ENSP00000385080.1:n.-80G=
ENST00000537726.5:n.53+14G=
ENST00000558022.5:c.-29-171G=	ENSP00000453152.1:n.-29-171G=
ENST00000558767.5:n.62G=
ENST00000561369.1:n.1G=
XM_024449872.1:c.-80G=	XP_024305640.1:n.-80G=
NM_001374377.1:c.-80G=	NP_001361306.1:n.-80G=
NM_001374380.1:c.-30+14G=	NP_001361309.1:n.-30+14G=