Canonical Allele Identifier: CA2533339667
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152675-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152675C>A , CM000677.2:g.80152675C>A GRCh38
NC_000015.9:g.80445017C>A , CM000677.1:g.80445017C>A GRCh37
NC_000015.8:g.78232072C>A NCBI36
NG_012833.1:g.4677C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+130C>A ENSP00000453152.1:n.-30+130C>A
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Search 100 bp 3'