Canonical Allele Identifier: CA971894001
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152676-T-A
gnomAD v4: 15-80152676-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152676T>A , CM000677.2:g.80152676T>A GRCh38
NC_000015.9:g.80445018T>A , CM000677.1:g.80445018T>A GRCh37
NC_000015.8:g.78232073T>A NCBI36
NG_012833.1:g.4678T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+131T>A ENSP00000453152.1:n.-30+131T>A
Search 100 bp 5'
Search 100 bp 3'