Canonical Allele Identifier: CA2190327537
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152857A= , CM000677.2:g.80152857A= GRCh38
NC_000015.9:g.80445199A= , CM000677.1:g.80445199A= GRCh37
NC_000015.8:g.78232254A= NCBI36
NG_012833.1:g.4859A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-198A= ENSP00000507680.1:n.-198A=
ENST00000261755.9:c.-30+16A= ENSP00000261755.5:n.-30+16A=
ENST00000407106.5:c.-78A= ENSP00000385080.1:n.-78A=
ENST00000537726.5:n.53+16A=
ENST00000558022.5:c.-29-169A= ENSP00000453152.1:n.-29-169A=
ENST00000558767.5:n.64A=
ENST00000561369.1:n.3A=
XM_024449872.1:c.-78A= XP_024305640.1:n.-78A=
NM_001374377.1:c.-78A= NP_001361306.1:n.-78A=
NM_001374380.1:c.-30+16A= NP_001361309.1:n.-30+16A=