Canonical Allele Identifier: CA1854042891

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69053230C= , CM000671.2:g.69053230C=	GRCh38
NC_000009.11:g.71668146C= , CM000671.1:g.71668146C=	GRCh37
NC_000009.10:g.70857966C=	NCBI36
NG_008845.2:g.22668C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000144.5:c.354C= MANE Select	NP_000135.2:p.Tyr118=
ENST00000484259.3:c.354C= MANE Select	ENSP00000419243.2:p.Tyr118=
NM_000144.4:c.354C=	NP_000135.2:p.Tyr118=
NM_001161706.1:c.354C=	NP_001155178.1:p.Tyr118=
NM_181425.2:c.354C=	NP_852090.1:p.Tyr118=
NM_181425.3:c.354C=	NP_852090.1:p.Tyr118=
ENST00000377270.7:c.354C=	ENSP00000366482.3:p.Tyr118=
ENST00000377270.8:c.129C=	ENSP00000366482.4:p.Tyr43=
ENST00000396364.7:c.354C=	ENSP00000379650.3:p.Tyr118=
ENST00000396366.6:c.354C=	ENSP00000379652.2:p.Tyr118=
ENST00000484259.1:c.76+6748C=
ENST00000498653.5:c.129C=	ENSP00000418015.1:p.Tyr43=
ENST00000642330.1:c.354C=	ENSP00000493770.1:p.Tyr118=
ENST00000642889.1:c.165+17283C=	ENSP00000493780.1:n.165+17283C=
ENST00000643352.1:c.354C=	ENSP00000496488.1:p.Tyr118=
ENST00000643765.1:c.352C=
ENST00000644653.1:c.263+6748C=	ENSP00000495217.1:n.263+6748C=
ENST00000644977.1:c.*79C=	ENSP00000495651.1:n.*79C=
ENST00000645088.1:c.263+6748C=	ENSP00000495447.1:n.263+6748C=
ENST00000646862.1:c.354C=	ENSP00000494599.1:p.Tyr118=