Canonical Allele Identifier: CA8739078
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 290766
dbSNP Id: rs747054712

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123886G>A , CM000679.2:g.72123886G>A GRCh38
NC_000017.10:g.70120027G>A , CM000679.1:g.70120027G>A GRCh37
NC_000017.9:g.67631622G>A NCBI36
NG_012490.1:g.7867G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1029G>A MANE Select ENSP00000245479.2:p.Pro343=
ENST00000245479.2:c.1029G>A ENSP00000245479.2:p.Pro343=
NM_000346.3:c.1029G>A NP_000337.1:p.Pro343=
NM_000346.4:c.1029G>A MANE Select NP_000337.1:p.Pro343=