Canonical Allele Identifier: CA400866978

Gene: SOX9

Linked Data

• MyVariant Identifiers: chr17:g.70119752C>G (hg19) ; chr17:g.72123611C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123611C>G , CM000679.2:g.72123611C>G	GRCh38
NC_000017.10:g.70119752C>G , CM000679.1:g.70119752C>G	GRCh37
NC_000017.9:g.67631347C>G	NCBI36
NG_012490.1:g.7592C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.754C>G MANE Select	ENSP00000245479.2:p.Leu252Val
ENST00000245479.2:c.754C>G	ENSP00000245479.2:p.Leu252Val
NM_000346.3:c.754C>G	NP_000337.1:p.Leu252Val
NM_000346.4:c.754C>G MANE Select	NP_000337.1:p.Leu252Val