Canonical Allele Identifier: CA8739082
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1194502
ClinVar RCV Id: RCV001557260 RCV002072095
dbSNP Id: rs762041707
ExAC: 17:70120056 C / A
gnomAD v2: 17-70120056-C-A
gnomAD v3: 17-72123915-C-A
gnomAD v4: 17-72123915-C-A
MyVariant Identifiers: chr17:g.70120056C>A (hg19) chr17:g.72123915C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123915C>A , CM000679.2:g.72123915C>A GRCh38
NC_000017.10:g.70120056C>A , CM000679.1:g.70120056C>A GRCh37
NC_000017.9:g.67631651C>A NCBI36
NG_012490.1:g.7896C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1058C>A MANE Select ENSP00000245479.2:p.Pro353Gln
ENST00000245479.2:c.1058C>A ENSP00000245479.2:p.Pro353Gln
NM_000346.3:c.1058C>A NP_000337.1:p.Pro353Gln
NM_000346.4:c.1058C>A MANE Select NP_000337.1:p.Pro353Gln
Search 100 bp 5'
Search 100 bp 3'