Canonical Allele Identifier: CA2190327466
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152837T= , CM000677.2:g.80152837T= GRCh38
NC_000015.9:g.80445179T= , CM000677.1:g.80445179T= GRCh37
NC_000015.8:g.78232234T= NCBI36
NG_012833.1:g.4839T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-218T= ENSP00000507680.1:n.-218T=
ENST00000261755.9:c.-34T= ENSP00000261755.5:n.-34T=
ENST00000407106.5:c.-98T= ENSP00000385080.1:n.-98T=
ENST00000537726.5:n.49T=
ENST00000558022.5:c.-29-189T= ENSP00000453152.1:n.-29-189T=
ENST00000558767.5:n.44T=
XM_024449872.1:c.-98T= XP_024305640.1:n.-98T=
NM_001374377.1:c.-98T= NP_001361306.1:n.-98T=
NM_001374380.1:c.-34T= NP_001361309.1:n.-34T=