Canonical Allele Identifier: CA2273926689
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124195G= , CM000679.2:g.72124195G= GRCh38
NC_000017.10:g.70120336G= , CM000679.1:g.70120336G= GRCh37
NC_000017.9:g.67631931G= NCBI36
NG_012490.1:g.8176G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1338G= MANE Select ENSP00000245479.2:p.Gln446=
ENST00000245479.2:c.1338G= ENSP00000245479.2:p.Gln446=
NM_000346.3:c.1338G= NP_000337.1:p.Gln446=
NM_000346.4:c.1338G= MANE Select NP_000337.1:p.Gln446=