Canonical Allele Identifier: CA2273926346
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123576C= , CM000679.2:g.72123576C= GRCh38
NC_000017.10:g.70119717C= , CM000679.1:g.70119717C= GRCh37
NC_000017.9:g.67631312C= NCBI36
NG_012490.1:g.7557C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.719C= MANE Select ENSP00000245479.2:p.Thr240=
ENST00000245479.2:c.719C= ENSP00000245479.2:p.Thr240=
NM_000346.3:c.719C= NP_000337.1:p.Thr240=
NM_000346.4:c.719C= MANE Select NP_000337.1:p.Thr240=