Canonical Allele Identifier: CA373530968

Gene: FXN

Linked Data

• dbSNP Id: rs1475266569
• gnomAD v2: 9-71679950-A-C
• gnomAD v3: 9-69065034-A-C
• gnomAD v4: 9-69065034-A-C
• MyVariant Identifiers: chr9:g.71679950A>C (hg19) ; chr9:g.69065034A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69065034A>C , CM000671.2:g.69065034A>C	GRCh38
NC_000009.11:g.71679950A>C , CM000671.1:g.71679950A>C	GRCh37
NC_000009.10:g.70869770A>C	NCBI36
NG_008845.2:g.34472A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.256A>C	ENSP00000366482.4:p.Ser86Arg
ENST00000484259.3:c.481A>C MANE Select	ENSP00000419243.2:p.Ser161Arg
ENST00000642330.1:c.384+11774A>C	ENSP00000493770.1:n.384+11774A>C
ENST00000642889.1:c.165+29087A>C	ENSP00000493780.1:n.165+29087A>C
ENST00000643352.1:c.481A>C	ENSP00000496488.1:p.Arg161=
ENST00000643765.1:c.479A>C
ENST00000644653.1:c.*84A>C	ENSP00000495217.1:n.*84A>C
ENST00000644977.1:c.*206A>C	ENSP00000495651.1:n.*206A>C
ENST00000645088.1:c.*84A>C	ENSP00000495447.1:n.*84A>C
ENST00000646862.1:c.384+11774A>C	ENSP00000494599.1:n.384+11774A>C
ENST00000377270.7:c.481A>C	ENSP00000366482.3:p.Ser161Arg
ENST00000396364.7:c.481A>C	ENSP00000379650.3:p.Arg161=
ENST00000396366.6:c.481A>C	ENSP00000379652.2:p.Arg161=
ENST00000484259.1:c.173A>C
ENST00000498653.5:c.256A>C	ENSP00000418015.1:p.Ser86Arg
NM_000144.4:c.481A>C	NP_000135.2:p.Ser161Arg
NM_001161706.1:c.481A>C	NP_001155178.1:p.Arg161=
NM_181425.2:c.481A>C	NP_852090.1:p.Arg161=
NM_000144.5:c.481A>C MANE Select	NP_000135.2:p.Ser161Arg
NM_181425.3:c.481A>C	NP_852090.1:p.Arg161=