Canonical Allele Identifier: CA400867223
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143251805
MyVariant Identifiers: chr17:g.70119867A>C (hg19) chr17:g.72123726A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123726A>C , CM000679.2:g.72123726A>C GRCh38
NC_000017.10:g.70119867A>C , CM000679.1:g.70119867A>C GRCh37
NC_000017.9:g.67631462A>C NCBI36
NG_012490.1:g.7707A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.869A>C MANE Select ENSP00000245479.2:p.Asp290Ala
ENST00000245479.2:c.869A>C ENSP00000245479.2:p.Asp290Ala
NM_000346.3:c.869A>C NP_000337.1:p.Asp290Ala
NM_000346.4:c.869A>C MANE Select NP_000337.1:p.Asp290Ala
Search 100 bp 5'
Search 100 bp 3'