Canonical Allele Identifier: CA1854065280

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072686T= , CM000671.2:g.69072686T=	GRCh38
NC_000009.11:g.71687602T= , CM000671.1:g.71687602T=	GRCh37
NC_000009.10:g.70877422T=	NCBI36
NG_008845.2:g.42124T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000144.5:c.557T= MANE Select	NP_000135.2:p.Leu186=
ENST00000484259.3:c.557T= MANE Select	ENSP00000419243.2:p.Leu186=
NM_000144.4:c.557T=	NP_000135.2:p.Leu186=
NM_001161706.1:c.482+7651T=	NP_001155178.1:n.482+7651T=
NM_181425.2:c.565T=	NP_852090.1:p.Trp189=
NM_181425.3:c.565T=	NP_852090.1:p.Trp189=
ENST00000377270.7:c.557T=	ENSP00000366482.3:p.Leu186=
ENST00000377270.8:c.332T=	ENSP00000366482.4:p.Leu111=
ENST00000396364.7:c.482+7651T=	ENSP00000379650.3:n.482+7651T=
ENST00000396366.6:c.565T=	ENSP00000379652.2:p.Trp189=
ENST00000484259.1:c.249T=
ENST00000498653.5:c.332T=	ENSP00000418015.1:p.Leu111=
ENST00000642330.1:c.384+19426T=	ENSP00000493770.1:n.384+19426T=
ENST00000642889.1:c.166-27215T=	ENSP00000493780.1:n.166-27215T=
ENST00000643352.1:c.482+7651T=	ENSP00000496488.1:n.482+7651T=
ENST00000643765.1:c.480+7651T=
ENST00000644653.1:c.*160T=	ENSP00000495217.1:n.*160T=
ENST00000644977.1:c.*207+7651T=	ENSP00000495651.1:n.*207+7651T=
ENST00000645088.1:c.*85+7651T=	ENSP00000495447.1:n.*85+7651T=
ENST00000646862.1:c.384+19426T=	ENSP00000494599.1:n.384+19426T=