Canonical Allele Identifier: CA12956911
Gene: FXN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69099647G>A , CM000671.2:g.69099647G>A GRCh38
NC_000009.11:g.71714563G>A , CM000671.1:g.71714563G>A GRCh37
NC_000009.10:g.70904383G>A NCBI36
NG_008845.2:g.69085G>A
NG_016342.2:g.3741G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642330.1:c.385-254G>A ENSP00000493770.1:n.385-254G>A
ENST00000642889.1:c.166-254G>A ENSP00000493780.1:n.166-254G>A
ENST00000643352.1:c.483-254G>A ENSP00000496488.1:n.483-254G>A
ENST00000643765.1:c.481-254G>A
ENST00000644977.1:c.*208-254G>A ENSP00000495651.1:n.*208-254G>A
ENST00000645088.1:c.*86-254G>A ENSP00000495447.1:n.*86-254G>A
ENST00000646862.1:c.385-254G>A ENSP00000494599.1:n.385-254G>A
ENST00000396364.7:c.483-254G>A ENSP00000379650.3:n.483-254G>A
NM_001161706.1:c.483-254G>A NP_001155178.1:n.483-254G>A