Canonical Allele Identifier: CA2273926385
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123654C= , CM000679.2:g.72123654C= GRCh38
NC_000017.10:g.70119795C= , CM000679.1:g.70119795C= GRCh37
NC_000017.9:g.67631390C= NCBI36
NG_012490.1:g.7635C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.797C= MANE Select ENSP00000245479.2:p.Pro266=
ENST00000245479.2:c.797C= ENSP00000245479.2:p.Pro266=
NM_000346.3:c.797C= NP_000337.1:p.Pro266=
NM_000346.4:c.797C= MANE Select NP_000337.1:p.Pro266=