Canonical Allele Identifier: CA971893190
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152515-G-GC
gnomAD v4: 15-80152515-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152515_80152516insC , CM000677.2:g.80152515_80152516insC GRCh38
NC_000015.9:g.80444857_80444858insC , CM000677.1:g.80444857_80444858insC GRCh37
NC_000015.8:g.78231912_78231913insC NCBI36
NG_012833.1:g.4517_4518insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-60_-59insC ENSP00000453152.1:n.-60_-59insC
Search 100 bp 5'
Search 100 bp 3'