Canonical Allele Identifier: CA8739079
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 618379
ClinVar RCV Id: RCV001811465 RCV002279516 RCV002067190 RCV003928257
dbSNP Id: rs768818630
ExAC: 17:70120031 C / T
gnomAD v2: 17-70120031-C-T
gnomAD v3: 17-72123890-C-T
gnomAD v4: 17-72123890-C-T
MyVariant Identifiers: chr17:g.70120031C>T (hg19) chr17:g.72123890C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123890C>T , CM000679.2:g.72123890C>T GRCh38
NC_000017.10:g.70120031C>T , CM000679.1:g.70120031C>T GRCh37
NC_000017.9:g.67631626C>T NCBI36
NG_012490.1:g.7871C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1033C>T MANE Select ENSP00000245479.2:p.Pro345Ser
ENST00000245479.2:c.1033C>T ENSP00000245479.2:p.Pro345Ser
NM_000346.3:c.1033C>T NP_000337.1:p.Pro345Ser
NM_000346.4:c.1033C>T MANE Select NP_000337.1:p.Pro345Ser
Search 100 bp 5'
Search 100 bp 3'