Canonical Allele Identifier: CA373529956

Gene: FXN

Linked Data

• MyVariant Identifiers: chr9:g.71668109T>A (hg19) ; chr9:g.69053193T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.92T>A	ENSP00000366482.4:p.Leu31Ter
ENST00000484259.3:c.317T>A MANE Select	ENSP00000419243.2:p.Leu106Ter
ENST00000642330.1:c.317T>A	ENSP00000493770.1:p.Leu106Ter
ENST00000642889.1:c.165+17246T>A	ENSP00000493780.1:n.165+17246T>A
ENST00000643352.1:c.317T>A	ENSP00000496488.1:p.Leu106Ter
ENST00000643765.1:c.315T>A
ENST00000644653.1:c.263+6711T>A	ENSP00000495217.1:n.263+6711T>A
ENST00000644977.1:c.*42T>A	ENSP00000495651.1:n.*42T>A
ENST00000645088.1:c.263+6711T>A	ENSP00000495447.1:n.263+6711T>A
ENST00000646862.1:c.317T>A	ENSP00000494599.1:p.Leu106Ter
ENST00000377270.7:c.317T>A	ENSP00000366482.3:p.Leu106Ter
ENST00000396364.7:c.317T>A	ENSP00000379650.3:p.Leu106Ter
ENST00000396366.6:c.317T>A	ENSP00000379652.2:p.Leu106Ter
ENST00000484259.1:c.76+6711T>A
ENST00000498653.5:c.92T>A	ENSP00000418015.1:p.Leu31Ter
NM_000144.4:c.317T>A	NP_000135.2:p.Leu106Ter
NM_001161706.1:c.317T>A	NP_001155178.1:p.Leu106Ter
NM_181425.2:c.317T>A	NP_852090.1:p.Leu106Ter
NM_000144.5:c.317T>A MANE Select	NP_000135.2:p.Leu106Ter
NM_181425.3:c.317T>A	NP_852090.1:p.Leu106Ter