Canonical Allele Identifier: CA2629872479
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152565-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152565G>A , CM000677.2:g.80152565G>A GRCh38
NC_000015.9:g.80444907G>A , CM000677.1:g.80444907G>A GRCh37
NC_000015.8:g.78231962G>A NCBI36
NG_012833.1:g.4567G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+20G>A ENSP00000453152.1:n.-30+20G>A
Search 100 bp 5'
Search 100 bp 3'