Canonical Allele Identifier: CA2190327627
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152893G= , CM000677.2:g.80152893G= GRCh38
NC_000015.9:g.80445235G= , CM000677.1:g.80445235G= GRCh37
NC_000015.8:g.78232290G= NCBI36
NG_012833.1:g.4895G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-162G= ENSP00000507680.1:n.-162G=
ENST00000261755.9:c.-30+52G= ENSP00000261755.5:n.-30+52G=
ENST00000407106.5:c.-42G= ENSP00000385080.1:n.-42G=
ENST00000537726.5:n.53+52G=
ENST00000558022.5:c.-29-133G= ENSP00000453152.1:n.-29-133G=
ENST00000558767.5:n.100G=
ENST00000561369.1:n.39G=
NM_000137.2:c.-162G= NP_000128.1:n.-162G=
XM_024449872.1:c.-42G= XP_024305640.1:n.-42G=
NM_001374377.1:c.-42G= NP_001361306.1:n.-42G=
NM_001374380.1:c.-30+52G= NP_001361309.1:n.-30+52G=