Canonical Allele Identifier: CA2273926384
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123652G= , CM000679.2:g.72123652G= GRCh38
NC_000017.10:g.70119793G= , CM000679.1:g.70119793G= GRCh37
NC_000017.9:g.67631388G= NCBI36
NG_012490.1:g.7633G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.795G= MANE Select ENSP00000245479.2:p.Gln265=
ENST00000245479.2:c.795G= ENSP00000245479.2:p.Gln265=
NM_000346.3:c.795G= NP_000337.1:p.Gln265=
NM_000346.4:c.795G= MANE Select NP_000337.1:p.Gln265=