Canonical Allele Identifier: CA373530754
Gene: FXN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69064945T>C , CM000671.2:g.69064945T>C GRCh38
NC_000009.11:g.71679861T>C , CM000671.1:g.71679861T>C GRCh37
NC_000009.10:g.70869681T>C NCBI36
NG_008845.2:g.34383T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377270.8:c.167T>C ENSP00000366482.4:p.Val56Ala
ENST00000484259.3:c.392T>C MANE Select ENSP00000419243.2:p.Val131Ala
ENST00000642330.1:c.384+11685T>C ENSP00000493770.1:n.384+11685T>C
ENST00000642889.1:c.165+28998T>C ENSP00000493780.1:n.165+28998T>C
ENST00000643352.1:c.392T>C ENSP00000496488.1:p.Val131Ala
ENST00000643765.1:c.390T>C
ENST00000644653.1:c.271T>C ENSP00000495217.1:p.Ser91Pro
ENST00000644977.1:c.*117T>C ENSP00000495651.1:n.*117T>C
ENST00000645088.1:c.271T>C ENSP00000495447.1:p.Ser91Pro
ENST00000646862.1:c.384+11685T>C ENSP00000494599.1:n.384+11685T>C
ENST00000377270.7:c.392T>C ENSP00000366482.3:p.Val131Ala
ENST00000396364.7:c.392T>C ENSP00000379650.3:p.Val131Ala
ENST00000396366.6:c.392T>C ENSP00000379652.2:p.Val131Ala
ENST00000484259.1:c.84T>C
ENST00000498653.5:c.167T>C ENSP00000418015.1:p.Val56Ala
NM_000144.4:c.392T>C NP_000135.2:p.Val131Ala
NM_001161706.1:c.392T>C NP_001155178.1:p.Val131Ala
NM_181425.2:c.392T>C NP_852090.1:p.Val131Ala
NM_000144.5:c.392T>C MANE Select NP_000135.2:p.Val131Ala
NM_181425.3:c.392T>C NP_852090.1:p.Val131Ala