Canonical Allele Identifier: CA2190327745
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152963G= , CM000677.2:g.80152963G= GRCh38
NC_000015.9:g.80445305G= , CM000677.1:g.80445305G= GRCh37
NC_000015.8:g.78232360G= NCBI36
NG_012833.1:g.4965G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-92G= ENSP00000507680.1:n.-92G=
ENST00000261755.9:c.-29-63G= ENSP00000261755.5:n.-29-63G=
ENST00000407106.5:c.-30+58G= ENSP00000385080.1:n.-30+58G=
ENST00000537726.5:n.54-63G=
ENST00000558022.5:c.-29-63G= ENSP00000453152.1:n.-29-63G=
ENST00000558767.5:n.170G=
ENST00000561369.1:n.51+58G=
ENST00000561421.5:c.-92G= ENSP00000453347.1:n.-92G=
NM_000137.2:c.-92G= NP_000128.1:n.-92G=
XM_024449872.1:c.-30+58G= XP_024305640.1:n.-30+58G=
NM_001374377.1:c.-30+58G= NP_001361306.1:n.-30+58G=
NM_001374380.1:c.-29-63G= NP_001361309.1:n.-29-63G=