Canonical Allele Identifier: CA2629872942
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152875G>A , CM000677.2:g.80152875G>A GRCh38
NC_000015.9:g.80445217G>A , CM000677.1:g.80445217G>A GRCh37
NC_000015.8:g.78232272G>A NCBI36
NG_012833.1:g.4877G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-180G>A ENSP00000507680.1:n.-180G>A
ENST00000261755.9:c.-30+34G>A ENSP00000261755.5:n.-30+34G>A
ENST00000407106.5:c.-60G>A ENSP00000385080.1:n.-60G>A
ENST00000537726.5:n.53+34G>A
ENST00000558022.5:c.-29-151G>A ENSP00000453152.1:n.-29-151G>A
ENST00000558767.5:n.82G>A
ENST00000561369.1:n.21G>A
XM_024449872.1:c.-60G>A XP_024305640.1:n.-60G>A
NM_001374377.1:c.-60G>A NP_001361306.1:n.-60G>A
NM_001374380.1:c.-30+34G>A NP_001361309.1:n.-30+34G>A