Canonical Allele Identifier: CA400867876
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143255159
COSMIC: COSM4438370
MyVariant Identifiers: chr17:g.70120179G>C (hg19) chr17:g.72124038G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124038G>C , CM000679.2:g.72124038G>C GRCh38
NC_000017.10:g.70120179G>C , CM000679.1:g.70120179G>C GRCh37
NC_000017.9:g.67631774G>C NCBI36
NG_012490.1:g.8019G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.1181G>C MANE Select ENSP00000245479.2:p.Arg394Pro
ENST00000245479.2:c.1181G>C ENSP00000245479.2:p.Arg394Pro
NM_000346.3:c.1181G>C NP_000337.1:p.Arg394Pro
NM_000346.4:c.1181G>C MANE Select NP_000337.1:p.Arg394Pro
Search 100 bp 5'
Search 100 bp 3'