Canonical Allele Identifier: CA465233634
Gene: FXN HGNC NCBI

Linked Data

gnomAD v4: 9-69065033-C-A
MyVariant Identifiers: chr9:g.71679949C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69065033C>A , CM000671.2:g.69065033C>A GRCh38
NC_000009.11:g.71679949C>A , CM000671.1:g.71679949C>A GRCh37
NC_000009.10:g.70869769C>A NCBI36
NG_008845.2:g.34471C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377270.8:c.255C>A ENSP00000366482.4:p.Ser85=
ENST00000484259.3:c.480C>A MANE Select ENSP00000419243.2:p.Ser160=
ENST00000642330.1:c.384+11773C>A ENSP00000493770.1:n.384+11773C>A
ENST00000642889.1:c.165+29086C>A ENSP00000493780.1:n.165+29086C>A
ENST00000643352.1:c.480C>A ENSP00000496488.1:p.Ser160=
ENST00000643765.1:c.478C>A
ENST00000644653.1:c.*83C>A ENSP00000495217.1:n.*83C>A
ENST00000644977.1:c.*205C>A ENSP00000495651.1:n.*205C>A
ENST00000645088.1:c.*83C>A ENSP00000495447.1:n.*83C>A
ENST00000646862.1:c.384+11773C>A ENSP00000494599.1:n.384+11773C>A
ENST00000377270.7:c.480C>A ENSP00000366482.3:p.Ser160=
ENST00000396364.7:c.480C>A ENSP00000379650.3:p.Ser160=
ENST00000396366.6:c.480C>A ENSP00000379652.2:p.Ser160=
ENST00000484259.1:c.172C>A
ENST00000498653.5:c.255C>A ENSP00000418015.1:p.Ser85=
NM_000144.4:c.480C>A NP_000135.2:p.Ser160=
NM_001161706.1:c.480C>A NP_001155178.1:p.Ser160=
NM_181425.2:c.480C>A NP_852090.1:p.Ser160=
NM_000144.5:c.480C>A MANE Select NP_000135.2:p.Ser160=
NM_181425.3:c.480C>A NP_852090.1:p.Ser160=