Canonical Allele Identifier: CA2190326598
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1595888187
gnomAD v4: 15-80152512-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152512A>T , CM000677.2:g.80152512A>T GRCh38
NC_000015.9:g.80444854A>T , CM000677.1:g.80444854A>T GRCh37
NC_000015.8:g.78231909A>T NCBI36
NG_012833.1:g.4514A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-63A>T ENSP00000453152.1:n.-63A>T
Search 100 bp 5'
Search 100 bp 3'