Canonical Allele Identifier: CA2273926651
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124113C= , CM000679.2:g.72124113C= GRCh38
NC_000017.10:g.70120254C= , CM000679.1:g.70120254C= GRCh37
NC_000017.9:g.67631849C= NCBI36
NG_012490.1:g.8094C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1256C= MANE Select ENSP00000245479.2:p.Ala419=
ENST00000245479.2:c.1256C= ENSP00000245479.2:p.Ala419=
NM_000346.3:c.1256C= NP_000337.1:p.Ala419=
NM_000346.4:c.1256C= MANE Select NP_000337.1:p.Ala419=