Canonical Allele Identifier: CA971893934
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041058630
gnomAD v3: 15-80152667-G-GC
gnomAD v4: 15-80152667-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152667_80152668insC , CM000677.2:g.80152667_80152668insC GRCh38
NC_000015.9:g.80445009_80445010insC , CM000677.1:g.80445009_80445010insC GRCh37
NC_000015.8:g.78232064_78232065insC NCBI36
NG_012833.1:g.4669_4670insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+122_-30+123insC ENSP00000453152.1:n.-30+122_-30+123insC
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