Canonical Allele Identifier: CA501432695
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1341849122
gnomAD v4: 17-72123889-A-C
MyVariant Identifiers: chr17:g.70120030A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123889A>C , CM000679.2:g.72123889A>C GRCh38
NC_000017.10:g.70120030A>C , CM000679.1:g.70120030A>C GRCh37
NC_000017.9:g.67631625A>C NCBI36
NG_012490.1:g.7870A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1032A>C MANE Select ENSP00000245479.2:p.Pro344=
ENST00000245479.2:c.1032A>C ENSP00000245479.2:p.Pro344=
NM_000346.3:c.1032A>C NP_000337.1:p.Pro344=
NM_000346.4:c.1032A>C MANE Select NP_000337.1:p.Pro344=
Search 100 bp 5'
Search 100 bp 3'