Canonical Allele Identifier: CA400867168
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143251527
MyVariant Identifiers: chr17:g.70119843T>G (hg19) chr17:g.72123702T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123702T>G , CM000679.2:g.72123702T>G GRCh38
NC_000017.10:g.70119843T>G , CM000679.1:g.70119843T>G GRCh37
NC_000017.9:g.67631438T>G NCBI36
NG_012490.1:g.7683T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.845T>G MANE Select ENSP00000245479.2:p.Val282Gly
ENST00000245479.2:c.845T>G ENSP00000245479.2:p.Val282Gly
NM_000346.3:c.845T>G NP_000337.1:p.Val282Gly
NM_000346.4:c.845T>G MANE Select NP_000337.1:p.Val282Gly
Search 100 bp 5'
Search 100 bp 3'