Canonical Allele Identifier: CA2273926492
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123882C= , CM000679.2:g.72123882C= GRCh38
NC_000017.10:g.70120023C= , CM000679.1:g.70120023C= GRCh37
NC_000017.9:g.67631618C= NCBI36
NG_012490.1:g.7863C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1025C= MANE Select ENSP00000245479.2:p.Pro342=
ENST00000245479.2:c.1025C= ENSP00000245479.2:p.Pro342=
NM_000346.3:c.1025C= NP_000337.1:p.Pro342=
NM_000346.4:c.1025C= MANE Select NP_000337.1:p.Pro342=
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