Canonical Allele Identifier: CA5072663

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69046390G>A , CM000671.2:g.69046390G>A	GRCh38
NC_000009.11:g.71661306G>A , CM000671.1:g.71661306G>A	GRCh37
NC_000009.10:g.70851126G>A	NCBI36
NG_008845.2:g.15828G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000144.5:c.171G>A MANE Select	NP_000135.2:p.Ser57=
ENST00000484259.3:c.171G>A MANE Select	ENSP00000419243.2:p.Ser57=
NM_000144.4:c.171G>A	NP_000135.2:p.Ser57=
NM_001161706.1:c.171G>A	NP_001155178.1:p.Ser57=
NM_181425.2:c.171G>A	NP_852090.1:p.Ser57=
NM_181425.3:c.171G>A	NP_852090.1:p.Ser57=
ENST00000377270.7:c.171G>A	ENSP00000366482.3:p.Ser57=
ENST00000377270.8:c.-55G>A	ENSP00000366482.4:n.-55G>A
ENST00000396364.7:c.171G>A	ENSP00000379650.3:p.Ser57=
ENST00000396366.6:c.171G>A	ENSP00000379652.2:p.Ser57=
ENST00000498653.5:c.-55G>A	ENSP00000418015.1:n.-55G>A
ENST00000642330.1:c.171G>A	ENSP00000493770.1:p.Ser57=
ENST00000642889.1:c.165+10443G>A	ENSP00000493780.1:n.165+10443G>A
ENST00000643352.1:c.171G>A	ENSP00000496488.1:p.Ser57=
ENST00000643765.1:c.169G>A
ENST00000644653.1:c.171G>A	ENSP00000495217.1:p.Ser57=
ENST00000644977.1:c.166-6750G>A	ENSP00000495651.1:n.166-6750G>A
ENST00000645088.1:c.171G>A	ENSP00000495447.1:p.Ser57=
ENST00000646862.1:c.171G>A	ENSP00000494599.1:p.Ser57=