Canonical Allele Identifier: CA1854042872

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69053193T= , CM000671.2:g.69053193T=	GRCh38
NC_000009.11:g.71668109T= , CM000671.1:g.71668109T=	GRCh37
NC_000009.10:g.70857929T=	NCBI36
NG_008845.2:g.22631T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000144.5:c.317T= MANE Select	NP_000135.2:p.Leu106=
ENST00000484259.3:c.317T= MANE Select	ENSP00000419243.2:p.Leu106=
NM_000144.4:c.317T=	NP_000135.2:p.Leu106=
NM_001161706.1:c.317T=	NP_001155178.1:p.Leu106=
NM_181425.2:c.317T=	NP_852090.1:p.Leu106=
NM_181425.3:c.317T=	NP_852090.1:p.Leu106=
ENST00000377270.7:c.317T=	ENSP00000366482.3:p.Leu106=
ENST00000377270.8:c.92T=	ENSP00000366482.4:p.Leu31=
ENST00000396364.7:c.317T=	ENSP00000379650.3:p.Leu106=
ENST00000396366.6:c.317T=	ENSP00000379652.2:p.Leu106=
ENST00000484259.1:c.76+6711T=
ENST00000498653.5:c.92T=	ENSP00000418015.1:p.Leu31=
ENST00000642330.1:c.317T=	ENSP00000493770.1:p.Leu106=
ENST00000642889.1:c.165+17246T=	ENSP00000493780.1:n.165+17246T=
ENST00000643352.1:c.317T=	ENSP00000496488.1:p.Leu106=
ENST00000643765.1:c.315T=
ENST00000644653.1:c.263+6711T=	ENSP00000495217.1:n.263+6711T=
ENST00000644977.1:c.*42T=	ENSP00000495651.1:n.*42T=
ENST00000645088.1:c.263+6711T=	ENSP00000495447.1:n.263+6711T=
ENST00000646862.1:c.317T=	ENSP00000494599.1:p.Leu106=