Canonical Allele Identifier: CA2190327437
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152812G= , CM000677.2:g.80152812G= GRCh38
NC_000015.9:g.80445154G= , CM000677.1:g.80445154G= GRCh37
NC_000015.8:g.78232209G= NCBI36
NG_012833.1:g.4814G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-243G= ENSP00000507680.1:n.-243G=
ENST00000261755.9:c.-59G= ENSP00000261755.5:n.-59G=
ENST00000407106.5:c.-123G= ENSP00000385080.1:n.-123G=
ENST00000537726.5:n.24G=
ENST00000558022.5:c.-29-214G= ENSP00000453152.1:n.-29-214G=
ENST00000558767.5:n.19G=
NM_001374377.1:c.-123G= NP_001361306.1:n.-123G=
NM_001374380.1:c.-59G= NP_001361309.1:n.-59G=