Canonical Allele Identifier: CA501432871
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1198185919
gnomAD v4: 17-72124048-C-T
MyVariant Identifiers: chr17:g.70120189C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124048C>T , CM000679.2:g.72124048C>T GRCh38
NC_000017.10:g.70120189C>T , CM000679.1:g.70120189C>T GRCh37
NC_000017.9:g.67631784C>T NCBI36
NG_012490.1:g.8029C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.1191C>T MANE Select ENSP00000245479.2:p.Ile397=
ENST00000245479.2:c.1191C>T ENSP00000245479.2:p.Ile397=
NM_000346.3:c.1191C>T NP_000337.1:p.Ile397=
NM_000346.4:c.1191C>T MANE Select NP_000337.1:p.Ile397=
Search 100 bp 5'
Search 100 bp 3'