Canonical Allele Identifier: CA2579347334
Gene: FXN HGNC NCBI

Linked Data

gnomAD v4: 9-69064923-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69064923C>A , CM000671.2:g.69064923C>A GRCh38
NC_000009.11:g.71679839C>A , CM000671.1:g.71679839C>A GRCh37
NC_000009.10:g.70869659C>A NCBI36
NG_008845.2:g.34361C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.160-15C>A ENSP00000366482.4:n.160-15C>A
ENST00000484259.3:c.385-15C>A MANE Select ENSP00000419243.2:n.385-15C>A
ENST00000642330.1:c.384+11663C>A ENSP00000493770.1:n.384+11663C>A
ENST00000642889.1:c.165+28976C>A ENSP00000493780.1:n.165+28976C>A
ENST00000643352.1:c.385-15C>A ENSP00000496488.1:n.385-15C>A
ENST00000643765.1:c.383-15C>A
ENST00000644653.1:c.264-15C>A ENSP00000495217.1:n.264-15C>A
ENST00000644977.1:c.*110-15C>A ENSP00000495651.1:n.*110-15C>A
ENST00000645088.1:c.264-15C>A ENSP00000495447.1:n.264-15C>A
ENST00000646862.1:c.384+11663C>A ENSP00000494599.1:n.384+11663C>A
ENST00000377270.7:c.385-15C>A ENSP00000366482.3:n.385-15C>A
ENST00000396364.7:c.385-15C>A ENSP00000379650.3:n.385-15C>A
ENST00000396366.6:c.385-15C>A ENSP00000379652.2:n.385-15C>A
ENST00000484259.1:c.77-15C>A
ENST00000498653.5:c.160-15C>A ENSP00000418015.1:n.160-15C>A
NM_000144.4:c.385-15C>A NP_000135.2:n.385-15C>A
NM_001161706.1:c.385-15C>A NP_001155178.1:n.385-15C>A
NM_181425.2:c.385-15C>A NP_852090.1:n.385-15C>A
NM_000144.5:c.385-15C>A MANE Select NP_000135.2:n.385-15C>A
NM_181425.3:c.385-15C>A NP_852090.1:n.385-15C>A