Canonical Allele Identifier: CA400867596
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2364495
ClinVar RCV Id: RCV002970387
dbSNP Id: rs2143253480
MyVariant Identifiers: chr17:g.70120041A>C (hg19) chr17:g.72123900A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123900A>C , CM000679.2:g.72123900A>C GRCh38
NC_000017.10:g.70120041A>C , CM000679.1:g.70120041A>C GRCh37
NC_000017.9:g.67631636A>C NCBI36
NG_012490.1:g.7881A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1043A>C MANE Select ENSP00000245479.2:p.Gln348Pro
ENST00000245479.2:c.1043A>C ENSP00000245479.2:p.Gln348Pro
NM_000346.3:c.1043A>C NP_000337.1:p.Gln348Pro
NM_000346.4:c.1043A>C MANE Select NP_000337.1:p.Gln348Pro
Search 100 bp 5'
Search 100 bp 3'