Canonical Allele Identifier: CA2190327423
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152807A= , CM000677.2:g.80152807A= GRCh38
NC_000015.9:g.80445149A= , CM000677.1:g.80445149A= GRCh37
NC_000015.8:g.78232204A= NCBI36
NG_012833.1:g.4809A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-248A= ENSP00000507680.1:n.-248A=
ENST00000261755.9:c.-64A= ENSP00000261755.5:n.-64A=
ENST00000407106.5:c.-128A= ENSP00000385080.1:n.-128A=
ENST00000537726.5:n.19A=
ENST00000558022.5:c.-29-219A= ENSP00000453152.1:n.-29-219A=
ENST00000558767.5:n.14A=
NM_001374377.1:c.-128A= NP_001361306.1:n.-128A=
NM_001374380.1:c.-64A= NP_001361309.1:n.-64A=