Canonical Allele Identifier: CA465233565

Gene: FXN

Linked Data

• MyVariant Identifiers: chr9:g.71679863T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69064947T>C , CM000671.2:g.69064947T>C	GRCh38
NC_000009.11:g.71679863T>C , CM000671.1:g.71679863T>C	GRCh37
NC_000009.10:g.70869683T>C	NCBI36
NG_008845.2:g.34385T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.169T>C	ENSP00000366482.4:p.Leu57=
ENST00000484259.3:c.394T>C MANE Select	ENSP00000419243.2:p.Leu132=
ENST00000642330.1:c.384+11687T>C	ENSP00000493770.1:n.384+11687T>C
ENST00000642889.1:c.165+29000T>C	ENSP00000493780.1:n.165+29000T>C
ENST00000643352.1:c.394T>C	ENSP00000496488.1:p.Leu132=
ENST00000643765.1:c.392T>C
ENST00000644653.1:c.273T>C	ENSP00000495217.1:p.Ser91=
ENST00000644977.1:c.*119T>C	ENSP00000495651.1:n.*119T>C
ENST00000645088.1:c.273T>C	ENSP00000495447.1:p.Ser91=
ENST00000646862.1:c.384+11687T>C	ENSP00000494599.1:n.384+11687T>C
ENST00000377270.7:c.394T>C	ENSP00000366482.3:p.Leu132=
ENST00000396364.7:c.394T>C	ENSP00000379650.3:p.Leu132=
ENST00000396366.6:c.394T>C	ENSP00000379652.2:p.Leu132=
ENST00000484259.1:c.86T>C
ENST00000498653.5:c.169T>C	ENSP00000418015.1:p.Leu57=
NM_000144.4:c.394T>C	NP_000135.2:p.Leu132=
NM_001161706.1:c.394T>C	NP_001155178.1:p.Leu132=
NM_181425.2:c.394T>C	NP_852090.1:p.Leu132=
NM_000144.5:c.394T>C MANE Select	NP_000135.2:p.Leu132=
NM_181425.3:c.394T>C	NP_852090.1:p.Leu132=