Canonical Allele Identifier: CA501351958
Gene: SOX9 HGNC NCBI

Linked Data

COSMIC: COSM6356683
MyVariant Identifiers: chr17:g.70119691C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123550C>A , CM000679.2:g.72123550C>A GRCh38
NC_000017.10:g.70119691C>A , CM000679.1:g.70119691C>A GRCh37
NC_000017.9:g.67631286C>A NCBI36
NG_012490.1:g.7531C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.693C>A MANE Select ENSP00000245479.2:p.Ser231=
ENST00000245479.2:c.693C>A ENSP00000245479.2:p.Ser231=
NM_000346.3:c.693C>A NP_000337.1:p.Ser231=
NM_000346.4:c.693C>A MANE Select NP_000337.1:p.Ser231=
Search 100 bp 5'
Search 100 bp 3'