Canonical Allele Identifier: CA400867549
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143253296
MyVariant Identifiers: chr17:g.70120018G>T (hg19) chr17:g.72123877G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123877G>T , CM000679.2:g.72123877G>T GRCh38
NC_000017.10:g.70120018G>T , CM000679.1:g.70120018G>T GRCh37
NC_000017.9:g.67631613G>T NCBI36
NG_012490.1:g.7858G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1020G>T MANE Select ENSP00000245479.2:p.Gln340His
ENST00000245479.2:c.1020G>T ENSP00000245479.2:p.Gln340His
NM_000346.3:c.1020G>T NP_000337.1:p.Gln340His
NM_000346.4:c.1020G>T MANE Select NP_000337.1:p.Gln340His
Search 100 bp 5'
Search 100 bp 3'