Canonical Allele Identifier: CA115583

Gene: SOX9

Linked Data

• ClinVar Variation Id: 2510
• ClinVar RCV Id: RCV000002617 ; RCV000020283 ; RCV000321802 ; RCV002276527
• dbSNP Id: rs80338688
• MyVariant Identifiers: chr17:g.70120318C>G (hg19) ; chr17:g.72124177C>G (hg38)
• PubMed: PMID:1809232 ; PMID:8001137 ; PMID:9002675 ; PMID:15806394 ; PMID:20301724

Genomic Alleles

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

Transcript Alleles

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