Canonical Allele Identifier: CA373529901

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69053166G>A , CM000671.2:g.69053166G>A	GRCh38
NC_000009.11:g.71668082G>A , CM000671.1:g.71668082G>A	GRCh37
NC_000009.10:g.70857902G>A	NCBI36
NG_008845.2:g.22604G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000144.5:c.290G>A MANE Select	NP_000135.2:p.Arg97Lys
ENST00000484259.3:c.290G>A MANE Select	ENSP00000419243.2:p.Arg97Lys
NM_000144.4:c.290G>A	NP_000135.2:p.Arg97Lys
NM_001161706.1:c.290G>A	NP_001155178.1:p.Arg97Lys
NM_181425.2:c.290G>A	NP_852090.1:p.Arg97Lys
NM_181425.3:c.290G>A	NP_852090.1:p.Arg97Lys
ENST00000377270.7:c.290G>A	ENSP00000366482.3:p.Arg97Lys
ENST00000377270.8:c.65G>A	ENSP00000366482.4:p.Arg22Lys
ENST00000396364.7:c.290G>A	ENSP00000379650.3:p.Arg97Lys
ENST00000396366.6:c.290G>A	ENSP00000379652.2:p.Arg97Lys
ENST00000484259.1:c.76+6684G>A
ENST00000498653.5:c.65G>A	ENSP00000418015.1:p.Arg22Lys
ENST00000642330.1:c.290G>A	ENSP00000493770.1:p.Arg97Lys
ENST00000642889.1:c.165+17219G>A	ENSP00000493780.1:n.165+17219G>A
ENST00000643352.1:c.290G>A	ENSP00000496488.1:p.Arg97Lys
ENST00000643765.1:c.288G>A
ENST00000644653.1:c.263+6684G>A	ENSP00000495217.1:n.263+6684G>A
ENST00000644977.1:c.*15G>A	ENSP00000495651.1:n.*15G>A
ENST00000645088.1:c.263+6684G>A	ENSP00000495447.1:n.263+6684G>A
ENST00000646862.1:c.290G>A	ENSP00000494599.1:p.Arg97Lys