Canonical Allele Identifier: CA1139665864
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 988528
ClinVar RCV Id: RCV001269939
dbSNP Id: rs1908204839
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124053_72124056del , CM000679.2:g.72124053_72124056del GRCh38
NC_000017.10:g.70120194_70120197del , CM000679.1:g.70120194_70120197del GRCh37
NC_000017.9:g.67631789_67631792del NCBI36
NG_012490.1:g.8034_8037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1196_1199del MANE Select ENSP00000245479.2:p.Thr399SerfsTer3
ENST00000245479.2:c.1196_1199del ENSP00000245479.2:p.Thr399SerfsTer3
NM_000346.3:c.1196_1199del NP_000337.1:p.Thr399SerfsTer3
NM_000346.4:c.1196_1199del MANE Select NP_000337.1:p.Thr399SerfsTer3
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Search 100 bp 3'