Canonical Allele Identifier: CA501432872
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143255342
MyVariant Identifiers: chr17:g.70120192G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124051G>A , CM000679.2:g.72124051G>A GRCh38
NC_000017.10:g.70120192G>A , CM000679.1:g.70120192G>A GRCh37
NC_000017.9:g.67631787G>A NCBI36
NG_012490.1:g.8032G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1194G>A MANE Select ENSP00000245479.2:p.Lys398=
ENST00000245479.2:c.1194G>A ENSP00000245479.2:p.Lys398=
NM_000346.3:c.1194G>A NP_000337.1:p.Lys398=
NM_000346.4:c.1194G>A MANE Select NP_000337.1:p.Lys398=
Search 100 bp 5'
Search 100 bp 3'