Canonical Allele Identifier: CA400867012

Gene: SOX9

Linked Data

• dbSNP Id: rs1295597096
• gnomAD v2: 17-70119770-C-A
• gnomAD v4: 17-72123629-C-A
• MyVariant Identifiers: chr17:g.70119770C>A (hg19) ; chr17:g.72123629C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123629C>A , CM000679.2:g.72123629C>A	GRCh38
NC_000017.10:g.70119770C>A , CM000679.1:g.70119770C>A	GRCh37
NC_000017.9:g.67631365C>A	NCBI36
NG_012490.1:g.7610C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.772C>A MANE Select	ENSP00000245479.2:p.Pro258Thr
ENST00000245479.2:c.772C>A	ENSP00000245479.2:p.Pro258Thr
NM_000346.3:c.772C>A	NP_000337.1:p.Pro258Thr
NM_000346.4:c.772C>A MANE Select	NP_000337.1:p.Pro258Thr