Canonical Allele Identifier: CA193385381
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs142157346
gnomAD v4: 9-69053240-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69053240G>T , CM000671.2:g.69053240G>T GRCh38
NC_000009.11:g.71668156G>T , CM000671.1:g.71668156G>T GRCh37
NC_000009.10:g.70857976G>T NCBI36
NG_008845.2:g.22678G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.139G>T ENSP00000366482.4:p.Asp47Tyr
ENST00000484259.3:c.364G>T MANE Select ENSP00000419243.2:p.Asp122Tyr
ENST00000642330.1:c.364G>T ENSP00000493770.1:p.Asp122Tyr
ENST00000642889.1:c.165+17293G>T ENSP00000493780.1:n.165+17293G>T
ENST00000643352.1:c.364G>T ENSP00000496488.1:p.Asp122Tyr
ENST00000643765.1:c.362G>T
ENST00000644653.1:c.263+6758G>T ENSP00000495217.1:n.263+6758G>T
ENST00000644977.1:c.*89G>T ENSP00000495651.1:n.*89G>T
ENST00000645088.1:c.263+6758G>T ENSP00000495447.1:n.263+6758G>T
ENST00000646862.1:c.364G>T ENSP00000494599.1:p.Asp122Tyr
ENST00000377270.7:c.364G>T ENSP00000366482.3:p.Asp122Tyr
ENST00000396364.7:c.364G>T ENSP00000379650.3:p.Asp122Tyr
ENST00000396366.6:c.364G>T ENSP00000379652.2:p.Asp122Tyr
ENST00000484259.1:c.76+6758G>T
ENST00000498653.5:c.139G>T ENSP00000418015.1:p.Asp47Tyr
NM_000144.4:c.364G>T NP_000135.2:p.Asp122Tyr
NM_001161706.1:c.364G>T NP_001155178.1:p.Asp122Tyr
NM_181425.2:c.364G>T NP_852090.1:p.Asp122Tyr
NM_000144.5:c.364G>T MANE Select NP_000135.2:p.Asp122Tyr
NM_181425.3:c.364G>T NP_852090.1:p.Asp122Tyr