Canonical Allele Identifier: CA10581490

Gene: SOX9

Linked Data

• ClinVar Variation Id: 235914
• ClinVar RCV Id: RCV000278794 ; RCV000224991 ; RCV001266335
• dbSNP Id: rs2229989
• MyVariant Identifiers: chr17:g.70118935C>G (hg19) ; chr17:g.72122794C>G (hg38)
• PubMed: PMID:19033726 ; PMID:24038782

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122794C>G , CM000679.2:g.72122794C>G	GRCh38
NC_000017.10:g.70118935C>G , CM000679.1:g.70118935C>G	GRCh37
NC_000017.9:g.67630530C>G	NCBI36
NG_012490.1:g.6775C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.507C>G MANE Select	ENSP00000245479.2:p.His169Gln
ENST00000245479.2:c.507C>G	ENSP00000245479.2:p.His169Gln
NM_000346.3:c.507C>G	NP_000337.1:p.His169Gln
NM_000346.4:c.507C>G MANE Select	NP_000337.1:p.His169Gln