Canonical Allele Identifier: CA193368877
Gene: FXN HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs142133355

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69035784T>C , CM000671.2:g.69035784T>C GRCh38
NC_000009.11:g.71650700T>C , CM000671.1:g.71650700T>C GRCh37
NC_000009.10:g.70840520T>C NCBI36
NG_008845.2:g.5222T>C

Transcript Alleles

HGVS Amino-acid change
NM_000144.4:c.2T>C VV
NM_001161706.1:c.2T>C VV
NM_181425.2:c.2T>C VV
NM_000144.5:c.2T>C VV MANE Preferred
ENST00000377270.7:c.2T>C
ENST00000396364.7:c.2T>C
ENST00000396366.6:c.2T>C