Canonical Allele Identifier: CA2731514917

Gene: FAH

Linked Data

• dbSNP Id: rs2142086166

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152599A>C , CM000677.2:g.80152599A>C	GRCh38
NC_000015.9:g.80444941A>C , CM000677.1:g.80444941A>C	GRCh37
NC_000015.8:g.78231996A>C	NCBI36
NG_012833.1:g.4601A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+54A>C	ENSP00000453152.1:n.-30+54A>C