Canonical Allele Identifier: CA115588

Gene: SOX9

Linked Data

• ClinVar Variation Id: 2517
• ClinVar RCV Id: RCV000002624 ; RCV001851587
• dbSNP Id: rs137853130
• MyVariant Identifiers: chr17:g.70118900G>A (hg19) ; chr17:g.72122759G>A (hg38)
• PubMed: PMID:11323423

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122759G>A , CM000679.2:g.72122759G>A	GRCh38
NC_000017.10:g.70118900G>A , CM000679.1:g.70118900G>A	GRCh37
NC_000017.9:g.67630495G>A	NCBI36
NG_012490.1:g.6740G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.472G>A MANE Select	ENSP00000245479.2:p.Ala158Thr
ENST00000245479.2:c.472G>A	ENSP00000245479.2:p.Ala158Thr
NM_000346.3:c.472G>A	NP_000337.1:p.Ala158Thr
NM_000346.4:c.472G>A MANE Select	NP_000337.1:p.Ala158Thr