Canonical Allele Identifier: CA400867574
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs768818630
gnomAD v4: 17-72123890-C-A
MyVariant Identifiers: chr17:g.70120031C>A (hg19) chr17:g.72123890C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123890C>A , CM000679.2:g.72123890C>A GRCh38
NC_000017.10:g.70120031C>A , CM000679.1:g.70120031C>A GRCh37
NC_000017.9:g.67631626C>A NCBI36
NG_012490.1:g.7871C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1033C>A MANE Select ENSP00000245479.2:p.Pro345Thr
ENST00000245479.2:c.1033C>A ENSP00000245479.2:p.Pro345Thr
NM_000346.3:c.1033C>A NP_000337.1:p.Pro345Thr
NM_000346.4:c.1033C>A MANE Select NP_000337.1:p.Pro345Thr
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