Canonical Allele Identifier: CA2273926344
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123575A= , CM000679.2:g.72123575A= GRCh38
NC_000017.10:g.70119716A= , CM000679.1:g.70119716A= GRCh37
NC_000017.9:g.67631311A= NCBI36
NG_012490.1:g.7556A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.718A= MANE Select ENSP00000245479.2:p.Thr240=
ENST00000245479.2:c.718A= ENSP00000245479.2:p.Thr240=
NM_000346.3:c.718A= NP_000337.1:p.Thr240=
NM_000346.4:c.718A= MANE Select NP_000337.1:p.Thr240=
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