Canonical Allele Identifier: CA400867211

Gene: SOX9

Linked Data

• dbSNP Id: rs2143251767
• MyVariant Identifiers: chr17:g.70119863T>A (hg19) ; chr17:g.72123722T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123722T>A , CM000679.2:g.72123722T>A	GRCh38
NC_000017.10:g.70119863T>A , CM000679.1:g.70119863T>A	GRCh37
NC_000017.9:g.67631458T>A	NCBI36
NG_012490.1:g.7703T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.865T>A MANE Select	ENSP00000245479.2:p.Phe289Ile
ENST00000245479.2:c.865T>A	ENSP00000245479.2:p.Phe289Ile
NM_000346.3:c.865T>A	NP_000337.1:p.Phe289Ile
NM_000346.4:c.865T>A MANE Select	NP_000337.1:p.Phe289Ile