Canonical Allele Identifier: CA1854065087

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072622C= , CM000671.2:g.69072622C=	GRCh38
NC_000009.11:g.71687538C= , CM000671.1:g.71687538C=	GRCh37
NC_000009.10:g.70877358C=	NCBI36
NG_008845.2:g.42060C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000144.5:c.493C= MANE Select	NP_000135.2:p.Arg165=
ENST00000484259.3:c.493C= MANE Select	ENSP00000419243.2:p.Arg165=
NM_000144.4:c.493C=	NP_000135.2:p.Arg165=
NM_001161706.1:c.482+7587C=	NP_001155178.1:n.482+7587C=
NM_181425.2:c.501C=	NP_852090.1:p.Ser167=
NM_181425.3:c.501C=	NP_852090.1:p.Ser167=
ENST00000377270.7:c.493C=	ENSP00000366482.3:p.Arg165=
ENST00000377270.8:c.268C=	ENSP00000366482.4:p.Arg90=
ENST00000396364.7:c.482+7587C=	ENSP00000379650.3:n.482+7587C=
ENST00000396366.6:c.501C=	ENSP00000379652.2:p.Ser167=
ENST00000484259.1:c.185C=
ENST00000498653.5:c.268C=	ENSP00000418015.1:p.Arg90=
ENST00000642330.1:c.384+19362C=	ENSP00000493770.1:n.384+19362C=
ENST00000642889.1:c.166-27279C=	ENSP00000493780.1:n.166-27279C=
ENST00000643352.1:c.482+7587C=	ENSP00000496488.1:n.482+7587C=
ENST00000643765.1:c.480+7587C=
ENST00000644653.1:c.*96C=	ENSP00000495217.1:n.*96C=
ENST00000644977.1:c.*207+7587C=	ENSP00000495651.1:n.*207+7587C=
ENST00000645088.1:c.*85+7587C=	ENSP00000495447.1:n.*85+7587C=
ENST00000646862.1:c.384+19362C=	ENSP00000494599.1:n.384+19362C=