Canonical Allele Identifier: CA2190326690
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041055446

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152545G>A , CM000677.2:g.80152545G>A GRCh38
NC_000015.9:g.80444887G>A , CM000677.1:g.80444887G>A GRCh37
NC_000015.8:g.78231942G>A NCBI36
NG_012833.1:g.4547G>A

Transcript Alleles

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