Canonical Allele Identifier: CA341683

Gene: SOX9

Linked Data

• ClinVar Variation Id: 21163
• ClinVar RCV Id: RCV000020282 ; RCV000310390
• dbSNP Id: rs80338688
• MyVariant Identifiers: chr17:g.70120318C>A (hg19) ; chr17:g.72124177C>A (hg38)
• PubMed: PMID:15806394 ; PMID:20301724

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72124177C>A , CM000679.2:g.72124177C>A	GRCh38
NC_000017.10:g.70120318C>A , CM000679.1:g.70120318C>A	GRCh37
NC_000017.9:g.67631913C>A	NCBI36
NG_012490.1:g.8158C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1320C>A MANE Select	ENSP00000245479.2:p.Tyr440Ter
ENST00000245479.2:c.1320C>A	ENSP00000245479.2:p.Tyr440Ter
NM_000346.3:c.1320C>A	NP_000337.1:p.Tyr440Ter
NM_000346.4:c.1320C>A MANE Select	NP_000337.1:p.Tyr440Ter