Canonical Allele Identifier: CA8739033
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2879111
ClinVar RCV Id: RCV003602774
dbSNP Id: rs779646701
ExAC: 17:70119814 C / T
gnomAD v2: 17-70119814-C-T
gnomAD v4: 17-72123673-C-T
MyVariant Identifiers: chr17:g.70119814C>T (hg19) chr17:g.72123673C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123673C>T , CM000679.2:g.72123673C>T GRCh38
NC_000017.10:g.70119814C>T , CM000679.1:g.70119814C>T GRCh37
NC_000017.9:g.67631409C>T NCBI36
NG_012490.1:g.7654C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.816C>T MANE Select ENSP00000245479.2:p.Asp272=
ENST00000245479.2:c.816C>T ENSP00000245479.2:p.Asp272=
NM_000346.3:c.816C>T NP_000337.1:p.Asp272=
NM_000346.4:c.816C>T MANE Select NP_000337.1:p.Asp272=
Search 100 bp 5'
Search 100 bp 3'