Canonical Allele Identifier: CA115583
Gene: SOX9 HGNC NCBI

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
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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
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