Canonical Allele Identifier: CA400867754

Gene: SOX9

Linked Data

• dbSNP Id: rs1908201195
• gnomAD v3: 17-72123981-A-C
• gnomAD v4: 17-72123981-A-C
• MyVariant Identifiers: chr17:g.70120122A>C (hg19) ; chr17:g.72123981A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123981A>C , CM000679.2:g.72123981A>C	GRCh38
NC_000017.10:g.70120122A>C , CM000679.1:g.70120122A>C	GRCh37
NC_000017.9:g.67631717A>C	NCBI36
NG_012490.1:g.7962A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1124A>C MANE Select	ENSP00000245479.2:p.Gln375Pro
ENST00000245479.2:c.1124A>C	ENSP00000245479.2:p.Gln375Pro
NM_000346.3:c.1124A>C	NP_000337.1:p.Gln375Pro
NM_000346.4:c.1124A>C MANE Select	NP_000337.1:p.Gln375Pro