Canonical Allele Identifier: CA293781801
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs962204489
gnomAD v3: 17-72122300-A-G
gnomAD v4: 17-72122300-A-G
MyVariant Identifiers: chr17:g.70118441A>G (hg19) chr17:g.72122300A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122300A>G , CM000679.2:g.72122300A>G GRCh38
NC_000017.10:g.70118441A>G , CM000679.1:g.70118441A>G GRCh37
NC_000017.9:g.67630036A>G NCBI36
NG_012490.1:g.6281A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-419A>G MANE Select ENSP00000245479.2:n.432-419A>G
ENST00000245479.2:c.432-419A>G ENSP00000245479.2:n.432-419A>G
NM_000346.3:c.432-419A>G NP_000337.1:n.432-419A>G
NM_000346.4:c.432-419A>G MANE Select NP_000337.1:n.432-419A>G
Search 100 bp 5'
Search 100 bp 3'