Canonical Allele Identifier: CA2190326892
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152610G= , CM000677.2:g.80152610G= GRCh38
NC_000015.9:g.80444952G= , CM000677.1:g.80444952G= GRCh37
NC_000015.8:g.78232007G= NCBI36
NG_012833.1:g.4612G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+65G= ENSP00000453152.1:n.-30+65G=