Canonical Allele Identifier: CA2190327574
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152876C= , CM000677.2:g.80152876C= GRCh38
NC_000015.9:g.80445218C= , CM000677.1:g.80445218C= GRCh37
NC_000015.8:g.78232273C= NCBI36
NG_012833.1:g.4878C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-179C= ENSP00000507680.1:n.-179C=
ENST00000261755.9:c.-30+35C= ENSP00000261755.5:n.-30+35C=
ENST00000407106.5:c.-59C= ENSP00000385080.1:n.-59C=
ENST00000537726.5:n.53+35C=
ENST00000558022.5:c.-29-150C= ENSP00000453152.1:n.-29-150C=
ENST00000558767.5:n.83C=
ENST00000561369.1:n.22C=
XM_024449872.1:c.-59C= XP_024305640.1:n.-59C=
NM_001374377.1:c.-59C= NP_001361306.1:n.-59C=
NM_001374380.1:c.-30+35C= NP_001361309.1:n.-30+35C=