Canonical Allele Identifier: CA400867865
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1908203827

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124032C>G , CM000679.2:g.72124032C>G GRCh38
NC_000017.10:g.70120173C>G , CM000679.1:g.70120173C>G GRCh37
NC_000017.9:g.67631768C>G NCBI36
NG_012490.1:g.8013C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1175C>G MANE Select ENSP00000245479.2:p.Ser392Cys
ENST00000245479.2:c.1175C>G ENSP00000245479.2:p.Ser392Cys
NM_000346.3:c.1175C>G NP_000337.1:p.Ser392Cys
NM_000346.4:c.1175C>G MANE Select NP_000337.1:p.Ser392Cys