Canonical Allele Identifier: CA400867288
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143252089
gnomAD v4: 17-72123753-C-T
MyVariant Identifiers: chr17:g.70119894C>T (hg19) chr17:g.72123753C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123753C>T , CM000679.2:g.72123753C>T GRCh38
NC_000017.10:g.70119894C>T , CM000679.1:g.70119894C>T GRCh37
NC_000017.9:g.67631489C>T NCBI36
NG_012490.1:g.7734C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.896C>T MANE Select ENSP00000245479.2:p.Pro299Leu
ENST00000245479.2:c.896C>T ENSP00000245479.2:p.Pro299Leu
NM_000346.3:c.896C>T NP_000337.1:p.Pro299Leu
NM_000346.4:c.896C>T MANE Select NP_000337.1:p.Pro299Leu
Search 100 bp 5'
Search 100 bp 3'