Canonical Allele Identifier: CA2190327171
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152702C= , CM000677.2:g.80152702C= GRCh38
NC_000015.9:g.80445044C= , CM000677.1:g.80445044C= GRCh37
NC_000015.8:g.78232099C= NCBI36
NG_012833.1:g.4704C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+157C= ENSP00000453152.1:n.-30+157C=