Canonical Allele Identifier: CA400867823
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143254841
MyVariant Identifiers: chr17:g.70120155G>A (hg19) chr17:g.72124014G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124014G>A , CM000679.2:g.72124014G>A GRCh38
NC_000017.10:g.70120155G>A , CM000679.1:g.70120155G>A GRCh37
NC_000017.9:g.67631750G>A NCBI36
NG_012490.1:g.7995G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1157G>A MANE Select ENSP00000245479.2:p.Ser386Asn
ENST00000245479.2:c.1157G>A ENSP00000245479.2:p.Ser386Asn
NM_000346.3:c.1157G>A NP_000337.1:p.Ser386Asn
NM_000346.4:c.1157G>A MANE Select NP_000337.1:p.Ser386Asn
Search 100 bp 5'
Search 100 bp 3'