Canonical Allele Identifier: CA16043055
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 373438
ClinVar RCV Id: RCV000413454
dbSNP Id: rs1057518419

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122766G>C , CM000679.2:g.72122766G>C GRCh38
NC_000017.10:g.70118907G>C , CM000679.1:g.70118907G>C GRCh37
NC_000017.9:g.67630502G>C NCBI36
NG_012490.1:g.6747G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.479G>C MANE Select ENSP00000245479.2:p.Arg160Pro
ENST00000245479.2:c.479G>C ENSP00000245479.2:p.Arg160Pro
NM_000346.3:c.479G>C NP_000337.1:p.Arg160Pro
NM_000346.4:c.479G>C MANE Select NP_000337.1:p.Arg160Pro