Canonical Allele Identifier: CA2629872936
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152871G>T , CM000677.2:g.80152871G>T GRCh38
NC_000015.9:g.80445213G>T , CM000677.1:g.80445213G>T GRCh37
NC_000015.8:g.78232268G>T NCBI36
NG_012833.1:g.4873G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-184G>T ENSP00000507680.1:n.-184G>T
ENST00000261755.9:c.-30+30G>T ENSP00000261755.5:n.-30+30G>T
ENST00000407106.5:c.-64G>T ENSP00000385080.1:n.-64G>T
ENST00000537726.5:n.53+30G>T
ENST00000558022.5:c.-29-155G>T ENSP00000453152.1:n.-29-155G>T
ENST00000558767.5:n.78G>T
ENST00000561369.1:n.17G>T
XM_024449872.1:c.-64G>T XP_024305640.1:n.-64G>T
NM_001374377.1:c.-64G>T NP_001361306.1:n.-64G>T
NM_001374380.1:c.-30+30G>T NP_001361309.1:n.-30+30G>T