Canonical Allele Identifier: CA2190326639
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1595888204

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152525T>G , CM000677.2:g.80152525T>G GRCh38
NC_000015.9:g.80444867T>G , CM000677.1:g.80444867T>G GRCh37
NC_000015.8:g.78231922T>G NCBI36
NG_012833.1:g.4527T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-50T>G ENSP00000453152.1:n.-50T>G