Canonical Allele Identifier: CA465233619

Gene: FXN

Linked Data

• MyVariant Identifiers: chr9:g.71679940T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69065024T>G , CM000671.2:g.69065024T>G	GRCh38
NC_000009.11:g.71679940T>G , CM000671.1:g.71679940T>G	GRCh37
NC_000009.10:g.70869760T>G	NCBI36
NG_008845.2:g.34462T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.246T>G	ENSP00000366482.4:p.Ser82=
ENST00000484259.3:c.471T>G MANE Select	ENSP00000419243.2:p.Ser157=
ENST00000642330.1:c.384+11764T>G	ENSP00000493770.1:n.384+11764T>G
ENST00000642889.1:c.165+29077T>G	ENSP00000493780.1:n.165+29077T>G
ENST00000643352.1:c.471T>G	ENSP00000496488.1:p.Ser157=
ENST00000643765.1:c.469T>G
ENST00000644653.1:c.*74T>G	ENSP00000495217.1:n.*74T>G
ENST00000644977.1:c.*196T>G	ENSP00000495651.1:n.*196T>G
ENST00000645088.1:c.*74T>G	ENSP00000495447.1:n.*74T>G
ENST00000646862.1:c.384+11764T>G	ENSP00000494599.1:n.384+11764T>G
ENST00000377270.7:c.471T>G	ENSP00000366482.3:p.Ser157=
ENST00000396364.7:c.471T>G	ENSP00000379650.3:p.Ser157=
ENST00000396366.6:c.471T>G	ENSP00000379652.2:p.Ser157=
ENST00000484259.1:c.163T>G
ENST00000498653.5:c.246T>G	ENSP00000418015.1:p.Ser82=
NM_000144.4:c.471T>G	NP_000135.2:p.Ser157=
NM_001161706.1:c.471T>G	NP_001155178.1:p.Ser157=
NM_181425.2:c.471T>G	NP_852090.1:p.Ser157=
NM_000144.5:c.471T>G MANE Select	NP_000135.2:p.Ser157=
NM_181425.3:c.471T>G	NP_852090.1:p.Ser157=