Canonical Allele Identifier: CA716102409
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1371925655

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152637G>A , CM000677.2:g.80152637G>A GRCh38
NC_000015.9:g.80444979G>A , CM000677.1:g.80444979G>A GRCh37
NC_000015.8:g.78232034G>A NCBI36
NG_012833.1:g.4639G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+92G>A ENSP00000453152.1:n.-30+92G>A