Canonical Allele Identifier: CA2190327463
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152831C= , CM000677.2:g.80152831C= GRCh38
NC_000015.9:g.80445173C= , CM000677.1:g.80445173C= GRCh37
NC_000015.8:g.78232228C= NCBI36
NG_012833.1:g.4833C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-224C= ENSP00000507680.1:n.-224C=
ENST00000261755.9:c.-40C= ENSP00000261755.5:n.-40C=
ENST00000407106.5:c.-104C= ENSP00000385080.1:n.-104C=
ENST00000537726.5:n.43C=
ENST00000558022.5:c.-29-195C= ENSP00000453152.1:n.-29-195C=
ENST00000558767.5:n.38C=
XM_024449872.1:c.-104C= XP_024305640.1:n.-104C=
NM_001374377.1:c.-104C= NP_001361306.1:n.-104C=
NM_001374380.1:c.-40C= NP_001361309.1:n.-40C=