Canonical Allele Identifier: CA716102362
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs11856087

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152531G>C , CM000677.2:g.80152531G>C GRCh38
NC_000015.9:g.80444873G>C , CM000677.1:g.80444873G>C GRCh37
NC_000015.8:g.78231928G>C NCBI36
NG_012833.1:g.4533G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-44G>C ENSP00000453152.1:n.-44G>C