Canonical Allele Identifier: CA400867383

Gene: SOX9

Linked Data

• dbSNP Id: rs2143252636
• MyVariant Identifiers: chr17:g.70119942A>C (hg19) ; chr17:g.72123801A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123801A>C , CM000679.2:g.72123801A>C	GRCh38
NC_000017.10:g.70119942A>C , CM000679.1:g.70119942A>C	GRCh37
NC_000017.9:g.67631537A>C	NCBI36
NG_012490.1:g.7782A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.944A>C MANE Select	ENSP00000245479.2:p.Tyr315Ser
ENST00000245479.2:c.944A>C	ENSP00000245479.2:p.Tyr315Ser
NM_000346.3:c.944A>C	NP_000337.1:p.Tyr315Ser
NM_000346.4:c.944A>C MANE Select	NP_000337.1:p.Tyr315Ser