Canonical Allele Identifier: CA293783086
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1032537335
gnomAD v4: 17-72123413-C-A
MyVariant Identifiers: chr17:g.70119554C>A (hg19) chr17:g.72123413C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123413C>A , CM000679.2:g.72123413C>A GRCh38
NC_000017.10:g.70119554C>A , CM000679.1:g.70119554C>A GRCh37
NC_000017.9:g.67631149C>A NCBI36
NG_012490.1:g.7394C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.686-130C>A MANE Select ENSP00000245479.2:n.686-130C>A
ENST00000245479.2:c.686-130C>A ENSP00000245479.2:n.686-130C>A
NM_000346.3:c.686-130C>A NP_000337.1:n.686-130C>A
NM_000346.4:c.686-130C>A MANE Select NP_000337.1:n.686-130C>A
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