Canonical Allele Identifier: CA373623460
Gene: FXN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69072610A>C , CM000671.2:g.69072610A>C GRCh38
NC_000009.11:g.71687526A>C , CM000671.1:g.71687526A>C GRCh37
NC_000009.10:g.70877346A>C NCBI36
NG_008845.2:g.42048A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.258-2A>C ENSP00000366482.4:n.258-2A>C
ENST00000484259.3:c.483-2A>C MANE Select ENSP00000419243.2:n.483-2A>C
ENST00000642330.1:c.384+19350A>C ENSP00000493770.1:n.384+19350A>C
ENST00000642889.1:c.166-27291A>C ENSP00000493780.1:n.166-27291A>C
ENST00000643352.1:c.482+7575A>C ENSP00000496488.1:n.482+7575A>C
ENST00000643765.1:c.480+7575A>C
ENST00000644653.1:c.*86-2A>C ENSP00000495217.1:n.*86-2A>C
ENST00000644977.1:c.*207+7575A>C ENSP00000495651.1:n.*207+7575A>C
ENST00000645088.1:c.*85+7575A>C ENSP00000495447.1:n.*85+7575A>C
ENST00000646862.1:c.384+19350A>C ENSP00000494599.1:n.384+19350A>C
ENST00000377270.7:c.483-2A>C ENSP00000366482.3:n.483-2A>C
ENST00000396364.7:c.482+7575A>C ENSP00000379650.3:n.482+7575A>C
ENST00000396366.6:c.491-2A>C ENSP00000379652.2:n.491-2A>C
ENST00000484259.1:c.175-2A>C
ENST00000498653.5:c.258-2A>C ENSP00000418015.1:n.258-2A>C
NM_000144.4:c.483-2A>C NP_000135.2:n.483-2A>C
NM_001161706.1:c.482+7575A>C NP_001155178.1:n.482+7575A>C
NM_181425.2:c.491-2A>C NP_852090.1:n.491-2A>C
NM_000144.5:c.483-2A>C MANE Select NP_000135.2:n.483-2A>C
NM_181425.3:c.491-2A>C NP_852090.1:n.491-2A>C