Canonical Allele Identifier: CA400867032
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2178023
ClinVar RCV Id: RCV002588479
dbSNP Id: rs1908179907
gnomAD v3: 17-72123639-A-C
gnomAD v4: 17-72123639-A-C
MyVariant Identifiers: chr17:g.70119780A>C (hg19) chr17:g.72123639A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123639A>C , CM000679.2:g.72123639A>C GRCh38
NC_000017.10:g.70119780A>C , CM000679.1:g.70119780A>C GRCh37
NC_000017.9:g.67631375A>C NCBI36
NG_012490.1:g.7620A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.782A>C MANE Select ENSP00000245479.2:p.Glu261Ala
ENST00000245479.2:c.782A>C ENSP00000245479.2:p.Glu261Ala
NM_000346.3:c.782A>C NP_000337.1:p.Glu261Ala
NM_000346.4:c.782A>C MANE Select NP_000337.1:p.Glu261Ala
Search 100 bp 5'
Search 100 bp 3'