Canonical Allele Identifier: CA2190327027
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152644G= , CM000677.2:g.80152644G= GRCh38
NC_000015.9:g.80444986G= , CM000677.1:g.80444986G= GRCh37
NC_000015.8:g.78232041G= NCBI36
NG_012833.1:g.4646G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+99G= ENSP00000453152.1:n.-30+99G=