Canonical Allele Identifier: CA400866900
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1206147
dbSNP Id: rs1224146749

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123575A>C , CM000679.2:g.72123575A>C GRCh38
NC_000017.10:g.70119716A>C , CM000679.1:g.70119716A>C GRCh37
NC_000017.9:g.67631311A>C NCBI36
NG_012490.1:g.7556A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.718A>C MANE Select ENSP00000245479.2:p.Thr240Pro
ENST00000245479.2:c.718A>C ENSP00000245479.2:p.Thr240Pro
NM_000346.3:c.718A>C NP_000337.1:p.Thr240Pro
NM_000346.4:c.718A>C MANE Select NP_000337.1:p.Thr240Pro