Canonical Allele Identifier: CA2190327101
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041058390

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152660G>A , CM000677.2:g.80152660G>A GRCh38
NC_000015.9:g.80445002G>A , CM000677.1:g.80445002G>A GRCh37
NC_000015.8:g.78232057G>A NCBI36
NG_012833.1:g.4662G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+115G>A ENSP00000453152.1:n.-30+115G>A