Canonical Allele Identifier: CA2629872508
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152592-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152592C>A , CM000677.2:g.80152592C>A GRCh38
NC_000015.9:g.80444934C>A , CM000677.1:g.80444934C>A GRCh37
NC_000015.8:g.78231989C>A NCBI36
NG_012833.1:g.4594C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+47C>A ENSP00000453152.1:n.-30+47C>A
Search 100 bp 5'
Search 100 bp 3'