Canonical Allele Identifier: CA400867530

Gene: SOX9

Linked Data

• dbSNP Id: rs1264553569
• gnomAD v2: 17-70120011-A-G
• gnomAD v4: 17-72123870-A-G
• MyVariant Identifiers: chr17:g.70120011A>G (hg19) ; chr17:g.72123870A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123870A>G , CM000679.2:g.72123870A>G	GRCh38
NC_000017.10:g.70120011A>G , CM000679.1:g.70120011A>G	GRCh37
NC_000017.9:g.67631606A>G	NCBI36
NG_012490.1:g.7851A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1013A>G MANE Select	ENSP00000245479.2:p.Lys338Arg
ENST00000245479.2:c.1013A>G	ENSP00000245479.2:p.Lys338Arg
NM_000346.3:c.1013A>G	NP_000337.1:p.Lys338Arg
NM_000346.4:c.1013A>G MANE Select	NP_000337.1:p.Lys338Arg