Canonical Allele Identifier: CA1854065350

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072722T= , CM000671.2:g.69072722T=	GRCh38
NC_000009.11:g.71687638T= , CM000671.1:g.71687638T=	GRCh37
NC_000009.10:g.70877458T=	NCBI36
NG_008845.2:g.42160T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000144.5:c.593T= MANE Select	NP_000135.2:p.Leu198=
ENST00000484259.3:c.593T= MANE Select	ENSP00000419243.2:p.Leu198=
NM_000144.4:c.593T=	NP_000135.2:p.Leu198=
NM_001161706.1:c.482+7687T=	NP_001155178.1:n.482+7687T=
NM_181425.2:c.*10T=	NP_852090.1:n.*10T=
NM_181425.3:c.*10T=	NP_852090.1:n.*10T=
ENST00000377270.7:c.593T=	ENSP00000366482.3:p.Leu198=
ENST00000377270.8:c.368T=	ENSP00000366482.4:p.Leu123=
ENST00000396364.7:c.482+7687T=	ENSP00000379650.3:n.482+7687T=
ENST00000396366.6:c.*10T=	ENSP00000379652.2:n.*10T=
ENST00000484259.1:c.285T=
ENST00000498653.5:c.368T=	ENSP00000418015.1:p.Leu123=
ENST00000642330.1:c.384+19462T=	ENSP00000493770.1:n.384+19462T=
ENST00000642889.1:c.166-27179T=	ENSP00000493780.1:n.166-27179T=
ENST00000643352.1:c.482+7687T=	ENSP00000496488.1:n.482+7687T=
ENST00000643765.1:c.480+7687T=
ENST00000644653.1:c.*196T=	ENSP00000495217.1:n.*196T=
ENST00000644977.1:c.*207+7687T=	ENSP00000495651.1:n.*207+7687T=
ENST00000645088.1:c.*85+7687T=	ENSP00000495447.1:n.*85+7687T=
ENST00000646862.1:c.384+19462T=	ENSP00000494599.1:n.384+19462T=