Canonical Allele Identifier: CA393622155
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80186142G>T , CM000677.2:g.80186142G>T GRCh38
NC_000015.9:g.80478484G>T , CM000677.1:g.80478484G>T GRCh37
NC_000015.8:g.78265539G>T NCBI36
NG_012833.1:g.38144G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682012.1:n.1282G>T
ENST00000561421.6:c.1193G>T MANE Select ENSP00000453347.2:p.Gly398Val
ENST00000646551.1:n.2807G>T
ENST00000261755.9:c.1193G>T ENSP00000261755.5:p.Gly398Val
ENST00000407106.5:c.1193G>T ENSP00000385080.1:p.Gly398Val
ENST00000539156.5:c.983G>T ENSP00000454271.1:p.Gly328Val
ENST00000559217.1:n.410G>T
ENST00000561421.5:c.1193G>T ENSP00000453347.1:p.Gly398Val
NM_000137.2:c.1193G>T NP_000128.1:p.Gly398Val
XM_024449872.1:c.1193G>T XP_024305640.1:p.Gly398Val
NM_000137.4:c.1193G>T MANE Select NP_000128.1:p.Gly398Val
NM_001374377.1:c.1193G>T NP_001361306.1:p.Gly398Val
NM_001374380.1:c.1193G>T NP_001361309.1:p.Gly398Val