Canonical Allele Identifier: CA2804915031
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152613A>T , CM000677.2:g.80152613A>T GRCh38
NC_000015.9:g.80444955A>T , CM000677.1:g.80444955A>T GRCh37
NC_000015.8:g.78232010A>T NCBI36
NG_012833.1:g.4615A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+68A>T ENSP00000453152.1:n.-30+68A>T