Canonical Allele Identifier: CA115582
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2509
ClinVar RCV Id: RCV000002616 RCV000002615
dbSNP Id: rs587776541
MyVariant Identifiers: chr17:g.70119734dupC (hg19) chr17:g.72123593dupC (hg38)
PubMed: PMID:8894698
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123593dup , CM000679.2:g.72123593dup GRCh38
NC_000017.10:g.70119734dup , CM000679.1:g.70119734dup GRCh37
NC_000017.9:g.67631329dup NCBI36
NG_012490.1:g.7574dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.736dup MANE Select ENSP00000245479.2:p.Gln246ProfsTer6
ENST00000245479.2:c.736dup ENSP00000245479.2:p.Gln246ProfsTer6
NM_000346.3:c.736dup NP_000337.1:p.Gln246ProfsTer6
NM_000346.4:c.736dup MANE Select NP_000337.1:p.Gln246ProfsTer6
Search 100 bp 5'
Search 100 bp 3'