Canonical Allele Identifier: CA400867921
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143255441
MyVariant Identifiers: chr17:g.70120199C>T (hg19) chr17:g.72124058C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124058C>T , CM000679.2:g.72124058C>T GRCh38
NC_000017.10:g.70120199C>T , CM000679.1:g.70120199C>T GRCh37
NC_000017.9:g.67631794C>T NCBI36
NG_012490.1:g.8039C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1201C>T MANE Select ENSP00000245479.2:p.Gln401Ter
ENST00000245479.2:c.1201C>T ENSP00000245479.2:p.Gln401Ter
NM_000346.3:c.1201C>T NP_000337.1:p.Gln401Ter
NM_000346.4:c.1201C>T MANE Select NP_000337.1:p.Gln401Ter
Search 100 bp 5'
Search 100 bp 3'