Canonical Allele Identifier: CA915952176
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 817692
ClinVar RCV Id: RCV001008900
dbSNP Id: rs1598176657
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123888dup , CM000679.2:g.72123888dup GRCh38
NC_000017.10:g.70120029dup , CM000679.1:g.70120029dup GRCh37
NC_000017.9:g.67631624dup NCBI36
NG_012490.1:g.7869dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1031dup MANE Select ENSP00000245479.2:p.Pro345ThrfsTer?
ENST00000245479.2:c.1031dup ENSP00000245479.2:p.Pro345ThrfsTer?
NM_000346.3:c.1031dup NP_000337.1:p.Pro345ThrfsTer?
NM_000346.4:c.1031dup MANE Select NP_000337.1:p.Pro345ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'