Canonical Allele Identifier: CA373623470

Gene: FXN

Linked Data

• MyVariant Identifiers: chr9:g.71687529G>C (hg19) ; chr9:g.69072613G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072613G>C , CM000671.2:g.69072613G>C	GRCh38
NC_000009.11:g.71687529G>C , CM000671.1:g.71687529G>C	GRCh37
NC_000009.10:g.70877349G>C	NCBI36
NG_008845.2:g.42051G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377270.8:c.259G>C	ENSP00000366482.4:p.Gly87Arg
ENST00000484259.3:c.484G>C MANE Select	ENSP00000419243.2:p.Gly162Arg
ENST00000642330.1:c.384+19353G>C	ENSP00000493770.1:n.384+19353G>C
ENST00000642889.1:c.166-27288G>C	ENSP00000493780.1:n.166-27288G>C
ENST00000643352.1:c.482+7578G>C	ENSP00000496488.1:n.482+7578G>C
ENST00000643765.1:c.480+7578G>C
ENST00000644653.1:c.*87G>C	ENSP00000495217.1:n.*87G>C
ENST00000644977.1:c.*207+7578G>C	ENSP00000495651.1:n.*207+7578G>C
ENST00000645088.1:c.*85+7578G>C	ENSP00000495447.1:n.*85+7578G>C
ENST00000646862.1:c.384+19353G>C	ENSP00000494599.1:n.384+19353G>C
ENST00000377270.7:c.484G>C	ENSP00000366482.3:p.Gly162Arg
ENST00000396364.7:c.482+7578G>C	ENSP00000379650.3:n.482+7578G>C
ENST00000396366.6:c.492G>C	ENSP00000379652.2:p.Val164=
ENST00000484259.1:c.176G>C
ENST00000498653.5:c.259G>C	ENSP00000418015.1:p.Gly87Arg
NM_000144.4:c.484G>C	NP_000135.2:p.Gly162Arg
NM_001161706.1:c.482+7578G>C	NP_001155178.1:n.482+7578G>C
NM_181425.2:c.492G>C	NP_852090.1:p.Val164=
NM_000144.5:c.484G>C MANE Select	NP_000135.2:p.Gly162Arg
NM_181425.3:c.492G>C	NP_852090.1:p.Val164=