Canonical Allele Identifier: CA193368764
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs570630585
gnomAD v2: 9-71650644-G-A
gnomAD v3: 9-69035728-G-A
gnomAD v4: 9-69035728-G-A
MyVariant Identifiers: chr9:g.71650644G>A (hg19) chr9:g.69035728G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69035728G>A , CM000671.2:g.69035728G>A GRCh38
NC_000009.11:g.71650644G>A , CM000671.1:g.71650644G>A GRCh37
NC_000009.10:g.70840464G>A NCBI36
NG_008845.2:g.5166G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.7:c.-55G>A ENSP00000366482.3:n.-55G>A
ENST00000396364.7:c.-55G>A ENSP00000379650.3:n.-55G>A
NM_000144.4:c.-55G>A NP_000135.2:n.-55G>A
NM_001161706.1:c.-55G>A NP_001155178.1:n.-55G>A
NM_181425.2:c.-55G>A NP_852090.1:n.-55G>A
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