Canonical Allele Identifier: CA16043696
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 374384
ClinVar RCV Id: RCV000415154
dbSNP Id: rs1057518669
MyVariant Identifiers: chr17:g.70120425T>C (hg19) chr17:g.72124284T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124284T>C , CM000679.2:g.72124284T>C GRCh38
NC_000017.10:g.70120425T>C , CM000679.1:g.70120425T>C GRCh37
NC_000017.9:g.67632020T>C NCBI36
NG_012490.1:g.8265T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.1427T>C MANE Select ENSP00000245479.2:p.Met476Thr
ENST00000245479.2:c.1427T>C ENSP00000245479.2:p.Met476Thr
NM_000346.3:c.1427T>C NP_000337.1:p.Met476Thr
NM_000346.4:c.1427T>C MANE Select NP_000337.1:p.Met476Thr
Search 100 bp 5'
Search 100 bp 3'