Canonical Allele Identifier: CA193369163

Gene: FXN

Linked Data

• dbSNP Id: rs141935559

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69035939dup , CM000671.2:g.69035939dup	GRCh38
NC_000009.11:g.71650855dup , CM000671.1:g.71650855dup	GRCh37
NC_000009.10:g.70840675dup	NCBI36
NG_008845.2:g.5377dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484259.3:c.157dup MANE Select	ENSP00000419243.2:p.Arg53ProfsTer?
ENST00000642330.1:c.157dup	ENSP00000493770.1:p.Arg53ProfsTer?
ENST00000642889.1:c.157dup	ENSP00000493780.1:p.Arg53ProfsTer5
ENST00000643352.1:c.157dup	ENSP00000496488.1:p.Arg53ProfsTer?
ENST00000643765.1:c.155dup
ENST00000644653.1:c.157dup	ENSP00000495217.1:p.Arg53ProfsTer?
ENST00000644977.1:c.157dup	ENSP00000495651.1:p.Arg53ProfsTer6
ENST00000645088.1:c.157dup	ENSP00000495447.1:p.Arg53ProfsTer?
ENST00000646862.1:c.157dup	ENSP00000494599.1:p.Arg53ProfsTer?
ENST00000377270.7:c.157dup	ENSP00000366482.3:p.Arg53ProfsTer?
ENST00000396364.7:c.157dup	ENSP00000379650.3:p.Arg53ProfsTer?
ENST00000396366.6:c.157dup	ENSP00000379652.2:p.Arg53ProfsTer?
NM_000144.4:c.157dup	NP_000135.2:p.Arg53ProfsTer?
NM_001161706.1:c.157dup	NP_001155178.1:p.Arg53ProfsTer?
NM_181425.2:c.157dup	NP_852090.1:p.Arg53ProfsTer?
NM_000144.5:c.157dup MANE Select	NP_000135.2:p.Arg53ProfsTer?
NM_181425.3:c.157dup	NP_852090.1:p.Arg53ProfsTer?