Canonical Allele Identifier: CA400867833
Gene: SOX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124017G>T , CM000679.2:g.72124017G>T GRCh38
NC_000017.10:g.70120158G>T , CM000679.1:g.70120158G>T GRCh37
NC_000017.9:g.67631753G>T NCBI36
NG_012490.1:g.7998G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1160G>T MANE Select ENSP00000245479.2:p.Ser387Ile
ENST00000245479.2:c.1160G>T ENSP00000245479.2:p.Ser387Ile
NM_000346.3:c.1160G>T NP_000337.1:p.Ser387Ile
NM_000346.4:c.1160G>T MANE Select NP_000337.1:p.Ser387Ile