Canonical Allele Identifier: CA373623756

Gene: FXN

Linked Data

• MyVariant Identifiers: chr9:g.71687637C>A (hg19) ; chr9:g.69072721C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072721C>A , CM000671.2:g.69072721C>A	GRCh38
NC_000009.11:g.71687637C>A , CM000671.1:g.71687637C>A	GRCh37
NC_000009.10:g.70877457C>A	NCBI36
NG_008845.2:g.42159C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.367C>A	ENSP00000366482.4:p.Leu123Met
ENST00000484259.3:c.592C>A MANE Select	ENSP00000419243.2:p.Leu198Met
ENST00000642330.1:c.384+19461C>A	ENSP00000493770.1:n.384+19461C>A
ENST00000642889.1:c.166-27180C>A	ENSP00000493780.1:n.166-27180C>A
ENST00000643352.1:c.482+7686C>A	ENSP00000496488.1:n.482+7686C>A
ENST00000643765.1:c.480+7686C>A
ENST00000644653.1:c.*195C>A	ENSP00000495217.1:n.*195C>A
ENST00000644977.1:c.*207+7686C>A	ENSP00000495651.1:n.*207+7686C>A
ENST00000645088.1:c.*85+7686C>A	ENSP00000495447.1:n.*85+7686C>A
ENST00000646862.1:c.384+19461C>A	ENSP00000494599.1:n.384+19461C>A
ENST00000377270.7:c.592C>A	ENSP00000366482.3:p.Leu198Met
ENST00000396364.7:c.482+7686C>A	ENSP00000379650.3:n.482+7686C>A
ENST00000396366.6:c.*9C>A	ENSP00000379652.2:n.*9C>A
ENST00000484259.1:c.284C>A
ENST00000498653.5:c.367C>A	ENSP00000418015.1:p.Leu123Met
NM_000144.4:c.592C>A	NP_000135.2:p.Leu198Met
NM_001161706.1:c.482+7686C>A	NP_001155178.1:n.482+7686C>A
NM_181425.2:c.*9C>A	NP_852090.1:n.*9C>A
NM_000144.5:c.592C>A MANE Select	NP_000135.2:p.Leu198Met
NM_181425.3:c.*9C>A	NP_852090.1:n.*9C>A