Canonical Allele Identifier: CA293782126
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1702492
ClinVar RCV Id: RCV002278810
dbSNP Id: rs1033320617
gnomAD v4: 17-72122716-C-A
MyVariant Identifiers: chr17:g.70118857C>A (hg19) chr17:g.72122716C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122716C>A , CM000679.2:g.72122716C>A GRCh38
NC_000017.10:g.70118857C>A , CM000679.1:g.70118857C>A GRCh37
NC_000017.9:g.67630452C>A NCBI36
NG_012490.1:g.6697C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-3C>A MANE Select ENSP00000245479.2:n.432-3C>A
ENST00000245479.2:c.432-3C>A ENSP00000245479.2:n.432-3C>A
NM_000346.3:c.432-3C>A NP_000337.1:n.432-3C>A
NM_000346.4:c.432-3C>A MANE Select NP_000337.1:n.432-3C>A
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