Canonical Allele Identifier: CA8739016
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2885207
ClinVar RCV Id: RCV003602872
dbSNP Id: rs775182990
ExAC: 17:70119753 T / C
gnomAD v2: 17-70119753-T-C
gnomAD v3: 17-72123612-T-C
gnomAD v4: 17-72123612-T-C
MyVariant Identifiers: chr17:g.70119753T>C (hg19) chr17:g.72123612T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123612T>C , CM000679.2:g.72123612T>C GRCh38
NC_000017.10:g.70119753T>C , CM000679.1:g.70119753T>C GRCh37
NC_000017.9:g.67631348T>C NCBI36
NG_012490.1:g.7593T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.755T>C MANE Select ENSP00000245479.2:p.Leu252Pro
ENST00000245479.2:c.755T>C ENSP00000245479.2:p.Leu252Pro
NM_000346.3:c.755T>C NP_000337.1:p.Leu252Pro
NM_000346.4:c.755T>C MANE Select NP_000337.1:p.Leu252Pro
Search 100 bp 5'
Search 100 bp 3'