Canonical Allele Identifier: CA2273925955
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122874C= , CM000679.2:g.72122874C= GRCh38
NC_000017.10:g.70119015C= , CM000679.1:g.70119015C= GRCh37
NC_000017.9:g.67630610C= NCBI36
NG_012490.1:g.6855C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.587C= MANE Select ENSP00000245479.2:p.Thr196=
ENST00000245479.2:c.587C= ENSP00000245479.2:p.Thr196=
NM_000346.3:c.587C= NP_000337.1:p.Thr196=
NM_000346.4:c.587C= MANE Select NP_000337.1:p.Thr196=
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