Canonical Allele Identifier: CA400867807
Gene: SOX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124005C>A , CM000679.2:g.72124005C>A GRCh38
NC_000017.10:g.70120146C>A , CM000679.1:g.70120146C>A GRCh37
NC_000017.9:g.67631741C>A NCBI36
NG_012490.1:g.7986C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1148C>A MANE Select ENSP00000245479.2:p.Thr383Asn
ENST00000245479.2:c.1148C>A ENSP00000245479.2:p.Thr383Asn
NM_000346.3:c.1148C>A NP_000337.1:p.Thr383Asn
NM_000346.4:c.1148C>A MANE Select NP_000337.1:p.Thr383Asn