Canonical Allele Identifier: CA8739136
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 618380
ClinVar RCV Id: RCV000756681
dbSNP Id: rs758181921
ExAC: 17:70120285 C / A
gnomAD v2: 17-70120285-C-A
gnomAD v4: 17-72124144-C-A
MyVariant Identifiers: chr17:g.70120285C>A (hg19) chr17:g.72124144C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124144C>A , CM000679.2:g.72124144C>A GRCh38
NC_000017.10:g.70120285C>A , CM000679.1:g.70120285C>A GRCh37
NC_000017.9:g.67631880C>A NCBI36
NG_012490.1:g.8125C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1287C>A MANE Select ENSP00000245479.2:p.Ser429Arg
ENST00000245479.2:c.1287C>A ENSP00000245479.2:p.Ser429Arg
NM_000346.3:c.1287C>A NP_000337.1:p.Ser429Arg
NM_000346.4:c.1287C>A MANE Select NP_000337.1:p.Ser429Arg
Search 100 bp 5'
Search 100 bp 3'