Canonical Allele Identifier: CA2273926331
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2055385
ClinVar RCV Id: RCV002933303
dbSNP Id: rs1908176120
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123540C>T , CM000679.2:g.72123540C>T GRCh38
NC_000017.10:g.70119681C>T , CM000679.1:g.70119681C>T GRCh37
NC_000017.9:g.67631276C>T NCBI36
NG_012490.1:g.7521C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-3C>T MANE Select ENSP00000245479.2:n.686-3C>T
ENST00000245479.2:c.686-3C>T ENSP00000245479.2:n.686-3C>T
NM_000346.3:c.686-3C>T NP_000337.1:n.686-3C>T
NM_000346.4:c.686-3C>T MANE Select NP_000337.1:n.686-3C>T
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