Canonical Allele Identifier: CA2629872778
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152782G>T , CM000677.2:g.80152782G>T GRCh38
NC_000015.9:g.80445124G>T , CM000677.1:g.80445124G>T GRCh37
NC_000015.8:g.78232179G>T NCBI36
NG_012833.1:g.4784G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407106.5:c.-153G>T ENSP00000385080.1:n.-153G>T
ENST00000558022.5:c.-30+237G>T ENSP00000453152.1:n.-30+237G>T