Canonical Allele Identifier: CA2273926487
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123875C= , CM000679.2:g.72123875C= GRCh38
NC_000017.10:g.70120016C= , CM000679.1:g.70120016C= GRCh37
NC_000017.9:g.67631611C= NCBI36
NG_012490.1:g.7856C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1018C= MANE Select ENSP00000245479.2:p.Gln340=
ENST00000245479.2:c.1018C= ENSP00000245479.2:p.Gln340=
NM_000346.3:c.1018C= NP_000337.1:p.Gln340=
NM_000346.4:c.1018C= MANE Select NP_000337.1:p.Gln340=
Search 100 bp 5'
Search 100 bp 3'