Canonical Allele Identifier: CA341683
Gene: SOX9 HGNC NCBI

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
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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
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