Canonical Allele Identifier: CA400866487

Gene: SOX9

Linked Data

• COSMIC: COSM1385627
• MyVariant Identifiers: chr17:g.70118952A>C (hg19) ; chr17:g.72122811A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122811A>C , CM000679.2:g.72122811A>C	GRCh38
NC_000017.10:g.70118952A>C , CM000679.1:g.70118952A>C	GRCh37
NC_000017.9:g.67630547A>C	NCBI36
NG_012490.1:g.6792A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.524A>C MANE Select	ENSP00000245479.2:p.Gln175Pro
ENST00000245479.2:c.524A>C	ENSP00000245479.2:p.Gln175Pro
NM_000346.3:c.524A>C	NP_000337.1:p.Gln175Pro
NM_000346.4:c.524A>C MANE Select	NP_000337.1:p.Gln175Pro