Canonical Allele Identifier: CA193982468
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs149335881
MyVariant Identifiers: chr9:g.71687590T>A (hg19) chr9:g.69072674T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69072674T>A , CM000671.2:g.69072674T>A GRCh38
NC_000009.11:g.71687590T>A , CM000671.1:g.71687590T>A GRCh37
NC_000009.10:g.70877410T>A NCBI36
NG_008845.2:g.42112T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.320T>A ENSP00000366482.4:p.Leu107His
ENST00000484259.3:c.545T>A MANE Select ENSP00000419243.2:p.Leu182His
ENST00000642330.1:c.384+19414T>A ENSP00000493770.1:n.384+19414T>A
ENST00000642889.1:c.166-27227T>A ENSP00000493780.1:n.166-27227T>A
ENST00000643352.1:c.482+7639T>A ENSP00000496488.1:n.482+7639T>A
ENST00000643765.1:c.480+7639T>A
ENST00000644653.1:c.*148T>A ENSP00000495217.1:n.*148T>A
ENST00000644977.1:c.*207+7639T>A ENSP00000495651.1:n.*207+7639T>A
ENST00000645088.1:c.*85+7639T>A ENSP00000495447.1:n.*85+7639T>A
ENST00000646862.1:c.384+19414T>A ENSP00000494599.1:n.384+19414T>A
ENST00000377270.7:c.545T>A ENSP00000366482.3:p.Leu182His
ENST00000396364.7:c.482+7639T>A ENSP00000379650.3:n.482+7639T>A
ENST00000396366.6:c.553T>A ENSP00000379652.2:p.Ser185Thr
ENST00000484259.1:c.237T>A
ENST00000498653.5:c.320T>A ENSP00000418015.1:p.Leu107His
NM_000144.4:c.545T>A NP_000135.2:p.Leu182His
NM_001161706.1:c.482+7639T>A NP_001155178.1:n.482+7639T>A
NM_181425.2:c.553T>A NP_852090.1:p.Ser185Thr
NM_000144.5:c.545T>A MANE Select NP_000135.2:p.Leu182His
NM_181425.3:c.553T>A NP_852090.1:p.Ser185Thr
Search 100 bp 5'
Search 100 bp 3'