Canonical Allele Identifier: CA2190327770
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152973C= , CM000677.2:g.80152973C= GRCh38
NC_000015.9:g.80445315C= , CM000677.1:g.80445315C= GRCh37
NC_000015.8:g.78232370C= NCBI36
NG_012833.1:g.4975C=

Transcript Alleles

HGVS Amino-acid change
ENST00000558767.6:c.-82C= ENSP00000507680.1:n.-82C=
ENST00000261755.9:c.-29-53C= ENSP00000261755.5:n.-29-53C=
ENST00000407106.5:c.-29-53C= ENSP00000385080.1:n.-29-53C=
ENST00000537726.5:n.54-53C=
ENST00000558022.5:c.-29-53C= ENSP00000453152.1:n.-29-53C=
ENST00000558767.5:n.180C=
ENST00000561369.1:n.52-53C=
ENST00000561421.5:c.-82C= ENSP00000453347.1:n.-82C=
NM_000137.2:c.-82C= NP_000128.1:n.-82C=
XM_024449872.1:c.-29-53C= XP_024305640.1:n.-29-53C=
NM_001374377.1:c.-29-53C= NP_001361306.1:n.-29-53C=
NM_001374380.1:c.-29-53C= NP_001361309.1:n.-29-53C=