Canonical Allele Identifier: CA2273926594
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124001C= , CM000679.2:g.72124001C= GRCh38
NC_000017.10:g.70120142C= , CM000679.1:g.70120142C= GRCh37
NC_000017.9:g.67631737C= NCBI36
NG_012490.1:g.7982C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1144C= MANE Select ENSP00000245479.2:p.Leu382=
ENST00000245479.2:c.1144C= ENSP00000245479.2:p.Leu382=
NM_000346.3:c.1144C= NP_000337.1:p.Leu382=
NM_000346.4:c.1144C= MANE Select NP_000337.1:p.Leu382=
Search 100 bp 5'
Search 100 bp 3'