Canonical Allele Identifier: CA373531013

Gene: FXN

Linked Data

• MyVariant Identifiers: chr9:g.71679959G>C (hg19) ; chr9:g.69065043G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69065043G>C , CM000671.2:g.69065043G>C	GRCh38
NC_000009.11:g.71679959G>C , CM000671.1:g.71679959G>C	GRCh37
NC_000009.10:g.70869779G>C	NCBI36
NG_008845.2:g.34481G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.257+8G>C	ENSP00000366482.4:n.257+8G>C
ENST00000484259.3:c.482+8G>C MANE Select	ENSP00000419243.2:n.482+8G>C
ENST00000642330.1:c.384+11783G>C	ENSP00000493770.1:n.384+11783G>C
ENST00000642889.1:c.165+29096G>C	ENSP00000493780.1:n.165+29096G>C
ENST00000643352.1:c.482+8G>C	ENSP00000496488.1:n.482+8G>C
ENST00000643765.1:c.480+8G>C
ENST00000644653.1:c.*85+8G>C	ENSP00000495217.1:n.*85+8G>C
ENST00000644977.1:c.*207+8G>C	ENSP00000495651.1:n.*207+8G>C
ENST00000645088.1:c.*85+8G>C	ENSP00000495447.1:n.*85+8G>C
ENST00000646862.1:c.384+11783G>C	ENSP00000494599.1:n.384+11783G>C
ENST00000377270.7:c.482+8G>C	ENSP00000366482.3:n.482+8G>C
ENST00000396364.7:c.482+8G>C	ENSP00000379650.3:n.482+8G>C
ENST00000396366.6:c.490G>C	ENSP00000379652.2:p.Val164Leu
ENST00000484259.1:c.174+8G>C
ENST00000498653.5:c.257+8G>C	ENSP00000418015.1:n.257+8G>C
NM_000144.4:c.482+8G>C	NP_000135.2:n.482+8G>C
NM_001161706.1:c.482+8G>C	NP_001155178.1:n.482+8G>C
NM_181425.2:c.490G>C	NP_852090.1:p.Val164Leu
NM_000144.5:c.482+8G>C MANE Select	NP_000135.2:n.482+8G>C
NM_181425.3:c.490G>C	NP_852090.1:p.Val164Leu