Canonical Allele Identifier: CA400867760
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1365723
ClinVar RCV Id: RCV001961884
dbSNP Id: rs2143254472
MyVariant Identifiers: chr17:g.70120124C>G (hg19) chr17:g.72123983C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123983C>G , CM000679.2:g.72123983C>G GRCh38
NC_000017.10:g.70120124C>G , CM000679.1:g.70120124C>G GRCh37
NC_000017.9:g.67631719C>G NCBI36
NG_012490.1:g.7964C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1126C>G MANE Select ENSP00000245479.2:p.Gln376Glu
ENST00000245479.2:c.1126C>G ENSP00000245479.2:p.Gln376Glu
NM_000346.3:c.1126C>G NP_000337.1:p.Gln376Glu
NM_000346.4:c.1126C>G MANE Select NP_000337.1:p.Gln376Glu
Search 100 bp 5'
Search 100 bp 3'