Canonical Allele Identifier: CA501432709
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2141694
ClinVar RCV Id: RCV003058680
dbSNP Id: rs1311398689
gnomAD v2: 17-70120051-G-A
gnomAD v3: 17-72123910-G-A
gnomAD v4: 17-72123910-G-A
MyVariant Identifiers: chr17:g.70120051G>A (hg19) chr17:g.72123910G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123910G>A , CM000679.2:g.72123910G>A GRCh38
NC_000017.10:g.70120051G>A , CM000679.1:g.70120051G>A GRCh37
NC_000017.9:g.67631646G>A NCBI36
NG_012490.1:g.7891G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1053G>A MANE Select ENSP00000245479.2:p.Gln351=
ENST00000245479.2:c.1053G>A ENSP00000245479.2:p.Gln351=
NM_000346.3:c.1053G>A NP_000337.1:p.Gln351=
NM_000346.4:c.1053G>A MANE Select NP_000337.1:p.Gln351=
Search 100 bp 5'
Search 100 bp 3'