Canonical Allele Identifier: CA2190327885
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80153006C= , CM000677.2:g.80153006C= GRCh38
NC_000015.9:g.80445348C= , CM000677.1:g.80445348C= GRCh37
NC_000015.8:g.78232403C= NCBI36
NG_012833.1:g.5008C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-49C= ENSP00000507680.1:n.-49C=
ENST00000682012.1:n.27C=
ENST00000561421.6:c.-49C= MANE Select ENSP00000453347.2:n.-49C=
ENST00000261755.9:c.-29-20C= ENSP00000261755.5:n.-29-20C=
ENST00000407106.5:c.-29-20C= ENSP00000385080.1:n.-29-20C=
ENST00000537726.5:n.54-20C=
ENST00000558022.5:c.-29-20C= ENSP00000453152.1:n.-29-20C=
ENST00000558767.5:n.213C=
ENST00000561369.1:n.52-20C=
ENST00000561421.5:c.-49C= ENSP00000453347.1:n.-49C=
NM_000137.2:c.-49C= NP_000128.1:n.-49C=
XM_024449872.1:c.-29-20C= XP_024305640.1:n.-29-20C=
NM_000137.4:c.-49C= MANE Select NP_000128.1:n.-49C=
NM_001374377.1:c.-29-20C= NP_001361306.1:n.-29-20C=
NM_001374380.1:c.-29-20C= NP_001361309.1:n.-29-20C=