Canonical Allele Identifier: CA2273926607
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124025G= , CM000679.2:g.72124025G= GRCh38
NC_000017.10:g.70120166G= , CM000679.1:g.70120166G= GRCh37
NC_000017.9:g.67631761G= NCBI36
NG_012490.1:g.8006G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1168G= MANE Select ENSP00000245479.2:p.Gly390=
ENST00000245479.2:c.1168G= ENSP00000245479.2:p.Gly390=
NM_000346.3:c.1168G= NP_000337.1:p.Gly390=
NM_000346.4:c.1168G= MANE Select NP_000337.1:p.Gly390=