Canonical Allele Identifier: CA400867881
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1301255636
gnomAD v4: 17-72124041-C-G
MyVariant Identifiers: chr17:g.70120182C>G (hg19) chr17:g.72124041C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124041C>G , CM000679.2:g.72124041C>G GRCh38
NC_000017.10:g.70120182C>G , CM000679.1:g.70120182C>G GRCh37
NC_000017.9:g.67631777C>G NCBI36
NG_012490.1:g.8022C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.1184C>G MANE Select ENSP00000245479.2:p.Thr395Arg
ENST00000245479.2:c.1184C>G ENSP00000245479.2:p.Thr395Arg
NM_000346.3:c.1184C>G NP_000337.1:p.Thr395Arg
NM_000346.4:c.1184C>G MANE Select NP_000337.1:p.Thr395Arg
Search 100 bp 5'
Search 100 bp 3'