Canonical Allele Identifier: CA400867387

Gene: SOX9

Linked Data

• MyVariant Identifiers: chr17:g.70119943C>G (hg19) ; chr17:g.72123802C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123802C>G , CM000679.2:g.72123802C>G	GRCh38
NC_000017.10:g.70119943C>G , CM000679.1:g.70119943C>G	GRCh37
NC_000017.9:g.67631538C>G	NCBI36
NG_012490.1:g.7783C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.945C>G MANE Select	ENSP00000245479.2:p.Tyr315Ter
ENST00000245479.2:c.945C>G	ENSP00000245479.2:p.Tyr315Ter
NM_000346.3:c.945C>G	NP_000337.1:p.Tyr315Ter
NM_000346.4:c.945C>G MANE Select	NP_000337.1:p.Tyr315Ter