Canonical Allele Identifier: CA373530834
Gene: FXN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69064986A>C , CM000671.2:g.69064986A>C GRCh38
NC_000009.11:g.71679902A>C , CM000671.1:g.71679902A>C GRCh37
NC_000009.10:g.70869722A>C NCBI36
NG_008845.2:g.34424A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377270.8:c.208A>C ENSP00000366482.4:p.Ile70Leu
ENST00000484259.3:c.433A>C MANE Select ENSP00000419243.2:p.Ile145Leu
ENST00000642330.1:c.384+11726A>C ENSP00000493770.1:n.384+11726A>C
ENST00000642889.1:c.165+29039A>C ENSP00000493780.1:n.165+29039A>C
ENST00000643352.1:c.433A>C ENSP00000496488.1:p.Ile145Leu
ENST00000643765.1:c.431A>C
ENST00000644653.1:c.*36A>C ENSP00000495217.1:n.*36A>C
ENST00000644977.1:c.*158A>C ENSP00000495651.1:n.*158A>C
ENST00000645088.1:c.*36A>C ENSP00000495447.1:n.*36A>C
ENST00000646862.1:c.384+11726A>C ENSP00000494599.1:n.384+11726A>C
ENST00000377270.7:c.433A>C ENSP00000366482.3:p.Ile145Leu
ENST00000396364.7:c.433A>C ENSP00000379650.3:p.Ile145Leu
ENST00000396366.6:c.433A>C ENSP00000379652.2:p.Ile145Leu
ENST00000484259.1:c.125A>C
ENST00000498653.5:c.208A>C ENSP00000418015.1:p.Ile70Leu
NM_000144.4:c.433A>C NP_000135.2:p.Ile145Leu
NM_001161706.1:c.433A>C NP_001155178.1:p.Ile145Leu
NM_181425.2:c.433A>C NP_852090.1:p.Ile145Leu
NM_000144.5:c.433A>C MANE Select NP_000135.2:p.Ile145Leu
NM_181425.3:c.433A>C NP_852090.1:p.Ile145Leu