Canonical Allele Identifier: CA373623663

Gene: FXN

Linked Data

• MyVariant Identifiers: chr9:g.71687600G>T (hg19) ; chr9:g.69072684G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072684G>T , CM000671.2:g.69072684G>T	GRCh38
NC_000009.11:g.71687600G>T , CM000671.1:g.71687600G>T	GRCh37
NC_000009.10:g.70877420G>T	NCBI36
NG_008845.2:g.42122G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.330G>T	ENSP00000366482.4:p.Leu110=
ENST00000484259.3:c.555G>T MANE Select	ENSP00000419243.2:p.Leu185=
ENST00000642330.1:c.384+19424G>T	ENSP00000493770.1:n.384+19424G>T
ENST00000642889.1:c.166-27217G>T	ENSP00000493780.1:n.166-27217G>T
ENST00000643352.1:c.482+7649G>T	ENSP00000496488.1:n.482+7649G>T
ENST00000643765.1:c.480+7649G>T
ENST00000644653.1:c.*158G>T	ENSP00000495217.1:n.*158G>T
ENST00000644977.1:c.*207+7649G>T	ENSP00000495651.1:n.*207+7649G>T
ENST00000645088.1:c.*85+7649G>T	ENSP00000495447.1:n.*85+7649G>T
ENST00000646862.1:c.384+19424G>T	ENSP00000494599.1:n.384+19424G>T
ENST00000377270.7:c.555G>T	ENSP00000366482.3:p.Leu185=
ENST00000396364.7:c.482+7649G>T	ENSP00000379650.3:n.482+7649G>T
ENST00000396366.6:c.563G>T	ENSP00000379652.2:p.Cys188Phe
ENST00000484259.1:c.247G>T
ENST00000498653.5:c.330G>T	ENSP00000418015.1:p.Leu110=
NM_000144.4:c.555G>T	NP_000135.2:p.Leu185=
NM_001161706.1:c.482+7649G>T	NP_001155178.1:n.482+7649G>T
NM_181425.2:c.563G>T	NP_852090.1:p.Cys188Phe
NM_000144.5:c.555G>T MANE Select	NP_000135.2:p.Leu185=
NM_181425.3:c.563G>T	NP_852090.1:p.Cys188Phe