Canonical Allele Identifier: CA2190327544
Gene: FAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152863C= , CM000677.2:g.80152863C= GRCh38
NC_000015.9:g.80445205C= , CM000677.1:g.80445205C= GRCh37
NC_000015.8:g.78232260C= NCBI36
NG_012833.1:g.4865C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-192C= ENSP00000507680.1:n.-192C=
ENST00000261755.9:c.-30+22C= ENSP00000261755.5:n.-30+22C=
ENST00000407106.5:c.-72C= ENSP00000385080.1:n.-72C=
ENST00000537726.5:n.53+22C=
ENST00000558022.5:c.-29-163C= ENSP00000453152.1:n.-29-163C=
ENST00000558767.5:n.70C=
ENST00000561369.1:n.9C=
XM_024449872.1:c.-72C= XP_024305640.1:n.-72C=
NM_001374377.1:c.-72C= NP_001361306.1:n.-72C=
NM_001374380.1:c.-30+22C= NP_001361309.1:n.-30+22C=
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