Canonical Allele Identifier: CA8739117
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1579690
ClinVar RCV Id: RCV002093362
dbSNP Id: rs750284138
ExAC: 17:70120167 G / C
gnomAD v2: 17-70120167-G-C
gnomAD v3: 17-72124026-G-C
gnomAD v4: 17-72124026-G-C
MyVariant Identifiers: chr17:g.70120167G>C (hg19) chr17:g.72124026G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124026G>C , CM000679.2:g.72124026G>C GRCh38
NC_000017.10:g.70120167G>C , CM000679.1:g.70120167G>C GRCh37
NC_000017.9:g.67631762G>C NCBI36
NG_012490.1:g.8007G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1169G>C MANE Select ENSP00000245479.2:p.Gly390Ala
ENST00000245479.2:c.1169G>C ENSP00000245479.2:p.Gly390Ala
NM_000346.3:c.1169G>C NP_000337.1:p.Gly390Ala
NM_000346.4:c.1169G>C MANE Select NP_000337.1:p.Gly390Ala
Search 100 bp 5'
Search 100 bp 3'