Canonical Allele Identifier: CA915952174
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 817208
ClinVar RCV Id: RCV001008320
dbSNP Id: rs1598176495

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123682dup , CM000679.2:g.72123682dup GRCh38
NC_000017.10:g.70119823dup , CM000679.1:g.70119823dup GRCh37
NC_000017.9:g.67631418dup NCBI36
NG_012490.1:g.7663dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.825dup MANE Select ENSP00000245479.2:p.Gly276ArgfsTer20
ENST00000245479.2:c.825dup ENSP00000245479.2:p.Gly276ArgfsTer20
NM_000346.3:c.825dup NP_000337.1:p.Gly276ArgfsTer20
NM_000346.4:c.825dup MANE Select NP_000337.1:p.Gly276ArgfsTer20