Canonical Allele Identifier: CA293783599
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs949561619
gnomAD v3: 17-72123909-A-C
gnomAD v4: 17-72123909-A-C
MyVariant Identifiers: chr17:g.70120050A>C (hg19) chr17:g.72123909A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123909A>C , CM000679.2:g.72123909A>C GRCh38
NC_000017.10:g.70120050A>C , CM000679.1:g.70120050A>C GRCh37
NC_000017.9:g.67631645A>C NCBI36
NG_012490.1:g.7890A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1052A>C MANE Select ENSP00000245479.2:p.Gln351Pro
ENST00000245479.2:c.1052A>C ENSP00000245479.2:p.Gln351Pro
NM_000346.3:c.1052A>C NP_000337.1:p.Gln351Pro
NM_000346.4:c.1052A>C MANE Select NP_000337.1:p.Gln351Pro
Search 100 bp 5'
Search 100 bp 3'