Canonical Allele Identifier: CA2629872681
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152692-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152692C>A , CM000677.2:g.80152692C>A GRCh38
NC_000015.9:g.80445034C>A , CM000677.1:g.80445034C>A GRCh37
NC_000015.8:g.78232089C>A NCBI36
NG_012833.1:g.4694C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+147C>A ENSP00000453152.1:n.-30+147C>A
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