Canonical Allele Identifier: CA400867544
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 489071
dbSNP Id: rs1339655148

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123875C>T , CM000679.2:g.72123875C>T GRCh38
NC_000017.10:g.70120016C>T , CM000679.1:g.70120016C>T GRCh37
NC_000017.9:g.67631611C>T NCBI36
NG_012490.1:g.7856C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1018C>T MANE Select ENSP00000245479.2:p.Gln340Ter
ENST00000245479.2:c.1018C>T ENSP00000245479.2:p.Gln340Ter
NM_000346.3:c.1018C>T NP_000337.1:p.Gln340Ter
NM_000346.4:c.1018C>T MANE Select NP_000337.1:p.Gln340Ter