Canonical Allele Identifier: CA193393085
Gene: FXN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69065018G>A , CM000671.2:g.69065018G>A GRCh38
NC_000009.11:g.71679934G>A , CM000671.1:g.71679934G>A GRCh37
NC_000009.10:g.70869754G>A NCBI36
NG_008845.2:g.34456G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377270.8:c.240G>A ENSP00000366482.4:p.Trp80Ter
ENST00000484259.3:c.465G>A MANE Select ENSP00000419243.2:p.Trp155Ter
ENST00000642330.1:c.384+11758G>A ENSP00000493770.1:n.384+11758G>A
ENST00000642889.1:c.165+29071G>A ENSP00000493780.1:n.165+29071G>A
ENST00000643352.1:c.465G>A ENSP00000496488.1:p.Trp155Ter
ENST00000643765.1:c.463G>A
ENST00000644653.1:c.*68G>A ENSP00000495217.1:n.*68G>A
ENST00000644977.1:c.*190G>A ENSP00000495651.1:n.*190G>A
ENST00000645088.1:c.*68G>A ENSP00000495447.1:n.*68G>A
ENST00000646862.1:c.384+11758G>A ENSP00000494599.1:n.384+11758G>A
ENST00000377270.7:c.465G>A ENSP00000366482.3:p.Trp155Ter
ENST00000396364.7:c.465G>A ENSP00000379650.3:p.Trp155Ter
ENST00000396366.6:c.465G>A ENSP00000379652.2:p.Trp155Ter
ENST00000484259.1:c.157G>A
ENST00000498653.5:c.240G>A ENSP00000418015.1:p.Trp80Ter
NM_000144.4:c.465G>A NP_000135.2:p.Trp155Ter
NM_001161706.1:c.465G>A NP_001155178.1:p.Trp155Ter
NM_181425.2:c.465G>A NP_852090.1:p.Trp155Ter
NM_000144.5:c.465G>A MANE Select NP_000135.2:p.Trp155Ter
NM_181425.3:c.465G>A NP_852090.1:p.Trp155Ter