Canonical Allele Identifier: CA501432698
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143253407
gnomAD v4: 17-72123892-C-A
MyVariant Identifiers: chr17:g.70120033C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123892C>A , CM000679.2:g.72123892C>A GRCh38
NC_000017.10:g.70120033C>A , CM000679.1:g.70120033C>A GRCh37
NC_000017.9:g.67631628C>A NCBI36
NG_012490.1:g.7873C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1035C>A MANE Select ENSP00000245479.2:p.Pro345=
ENST00000245479.2:c.1035C>A ENSP00000245479.2:p.Pro345=
NM_000346.3:c.1035C>A NP_000337.1:p.Pro345=
NM_000346.4:c.1035C>A MANE Select NP_000337.1:p.Pro345=
Search 100 bp 5'
Search 100 bp 3'