Canonical Allele Identifier: CA8739030
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs778335883
ExAC: 17:70119805 C / A
gnomAD v2: 17-70119805-C-A
gnomAD v4: 17-72123664-C-A
COSMIC: COSM707420
MyVariant Identifiers: chr17:g.70119805C>A (hg19) chr17:g.72123664C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123664C>A , CM000679.2:g.72123664C>A GRCh38
NC_000017.10:g.70119805C>A , CM000679.1:g.70119805C>A GRCh37
NC_000017.9:g.67631400C>A NCBI36
NG_012490.1:g.7645C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.807C>A MANE Select ENSP00000245479.2:p.Asp269Glu
ENST00000245479.2:c.807C>A ENSP00000245479.2:p.Asp269Glu
NM_000346.3:c.807C>A NP_000337.1:p.Asp269Glu
NM_000346.4:c.807C>A MANE Select NP_000337.1:p.Asp269Glu
Search 100 bp 5'
Search 100 bp 3'