Canonical Allele Identifier: CA193393078

Gene: FXN

Linked Data

• dbSNP Id: rs77781994
• MyVariant Identifiers: chr9:g.71679927A>G (hg19) ; chr9:g.69065011A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69065011A>G , CM000671.2:g.69065011A>G	GRCh38
NC_000009.11:g.71679927A>G , CM000671.1:g.71679927A>G	GRCh37
NC_000009.10:g.70869747A>G	NCBI36
NG_008845.2:g.34449A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.233A>G	ENSP00000366482.4:p.Gln78Arg
ENST00000484259.3:c.458A>G MANE Select	ENSP00000419243.2:p.Gln153Arg
ENST00000642330.1:c.384+11751A>G	ENSP00000493770.1:n.384+11751A>G
ENST00000642889.1:c.165+29064A>G	ENSP00000493780.1:n.165+29064A>G
ENST00000643352.1:c.458A>G	ENSP00000496488.1:p.Gln153Arg
ENST00000643765.1:c.456A>G
ENST00000644653.1:c.*61A>G	ENSP00000495217.1:n.*61A>G
ENST00000644977.1:c.*183A>G	ENSP00000495651.1:n.*183A>G
ENST00000645088.1:c.*61A>G	ENSP00000495447.1:n.*61A>G
ENST00000646862.1:c.384+11751A>G	ENSP00000494599.1:n.384+11751A>G
ENST00000377270.7:c.458A>G	ENSP00000366482.3:p.Gln153Arg
ENST00000396364.7:c.458A>G	ENSP00000379650.3:p.Gln153Arg
ENST00000396366.6:c.458A>G	ENSP00000379652.2:p.Gln153Arg
ENST00000484259.1:c.150A>G
ENST00000498653.5:c.233A>G	ENSP00000418015.1:p.Gln78Arg
NM_000144.4:c.458A>G	NP_000135.2:p.Gln153Arg
NM_001161706.1:c.458A>G	NP_001155178.1:p.Gln153Arg
NM_181425.2:c.458A>G	NP_852090.1:p.Gln153Arg
NM_000144.5:c.458A>G MANE Select	NP_000135.2:p.Gln153Arg
NM_181425.3:c.458A>G	NP_852090.1:p.Gln153Arg