Canonical Allele Identifier: CA1854051866

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69064957A= , CM000671.2:g.69064957A=	GRCh38
NC_000009.11:g.71679873A= , CM000671.1:g.71679873A=	GRCh37
NC_000009.10:g.70869693A=	NCBI36
NG_008845.2:g.34395A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.179A=	ENSP00000366482.4:p.Lys60=
ENST00000484259.3:c.404A= MANE Select	ENSP00000419243.2:p.Lys135=
ENST00000642330.1:c.384+11697A=	ENSP00000493770.1:n.384+11697A=
ENST00000642889.1:c.165+29010A=	ENSP00000493780.1:n.165+29010A=
ENST00000643352.1:c.404A=	ENSP00000496488.1:p.Lys135=
ENST00000643765.1:c.402A=
ENST00000644653.1:c.*7A=	ENSP00000495217.1:n.*7A=
ENST00000644977.1:c.*129A=	ENSP00000495651.1:n.*129A=
ENST00000645088.1:c.*7A=	ENSP00000495447.1:n.*7A=
ENST00000646862.1:c.384+11697A=	ENSP00000494599.1:n.384+11697A=
ENST00000377270.7:c.404A=	ENSP00000366482.3:p.Lys135=
ENST00000396364.7:c.404A=	ENSP00000379650.3:p.Lys135=
ENST00000396366.6:c.404A=	ENSP00000379652.2:p.Lys135=
ENST00000484259.1:c.96A=
ENST00000498653.5:c.179A=	ENSP00000418015.1:p.Lys60=
NM_000144.4:c.404A=	NP_000135.2:p.Lys135=
NM_001161706.1:c.404A=	NP_001155178.1:p.Lys135=
NM_181425.2:c.404A=	NP_852090.1:p.Lys135=
NM_000144.5:c.404A= MANE Select	NP_000135.2:p.Lys135=
NM_181425.3:c.404A=	NP_852090.1:p.Lys135=