Canonical Allele Identifier: CA2804915039
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152617_80152618insAC , CM000677.2:g.80152617_80152618insAC GRCh38
NC_000015.9:g.80444959_80444960insAC , CM000677.1:g.80444959_80444960insAC GRCh37
NC_000015.8:g.78232014_78232015insAC NCBI36
NG_012833.1:g.4619_4620insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+72_-30+73insAC ENSP00000453152.1:n.-30+72_-30+73insAC