Canonical Allele Identifier: CA971893253
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041054872
gnomAD v3: 15-80152523-A-G
gnomAD v4: 15-80152523-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152523A>G , CM000677.2:g.80152523A>G GRCh38
NC_000015.9:g.80444865A>G , CM000677.1:g.80444865A>G GRCh37
NC_000015.8:g.78231920A>G NCBI36
NG_012833.1:g.4525A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-52A>G ENSP00000453152.1:n.-52A>G
Search 100 bp 5'
Search 100 bp 3'