Canonical Allele Identifier: CA2629872937
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152872G>T , CM000677.2:g.80152872G>T GRCh38
NC_000015.9:g.80445214G>T , CM000677.1:g.80445214G>T GRCh37
NC_000015.8:g.78232269G>T NCBI36
NG_012833.1:g.4874G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-183G>T ENSP00000507680.1:n.-183G>T
ENST00000261755.9:c.-30+31G>T ENSP00000261755.5:n.-30+31G>T
ENST00000407106.5:c.-63G>T ENSP00000385080.1:n.-63G>T
ENST00000537726.5:n.53+31G>T
ENST00000558022.5:c.-29-154G>T ENSP00000453152.1:n.-29-154G>T
ENST00000558767.5:n.79G>T
ENST00000561369.1:n.18G>T
XM_024449872.1:c.-63G>T XP_024305640.1:n.-63G>T
NM_001374377.1:c.-63G>T NP_001361306.1:n.-63G>T
NM_001374380.1:c.-30+31G>T NP_001361309.1:n.-30+31G>T