Canonical Allele Identifier: CA115585

Gene: SOX9

Linked Data

• ClinVar Variation Id: 2511
• ClinVar RCV Id: RCV000002618 ; RCV003497831
• dbSNP Id: rs104894647
• MyVariant Identifiers: chr17:g.70118945A>G (hg19) ; chr17:g.72122804A>G (hg38)
• PubMed: PMID:10951468

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122804A>G , CM000679.2:g.72122804A>G	GRCh38
NC_000017.10:g.70118945A>G , CM000679.1:g.70118945A>G	GRCh37
NC_000017.9:g.67630540A>G	NCBI36
NG_012490.1:g.6785A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.517A>G MANE Select	ENSP00000245479.2:p.Lys173Glu
ENST00000245479.2:c.517A>G	ENSP00000245479.2:p.Lys173Glu
NM_000346.3:c.517A>G	NP_000337.1:p.Lys173Glu
NM_000346.4:c.517A>G MANE Select	NP_000337.1:p.Lys173Glu