Canonical Allele Identifier: CA400868192
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143256719
COSMIC: COSM5364340
MyVariant Identifiers: chr17:g.70120317A>G (hg19) chr17:g.72124176A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124176A>G , CM000679.2:g.72124176A>G GRCh38
NC_000017.10:g.70120317A>G , CM000679.1:g.70120317A>G GRCh37
NC_000017.9:g.67631912A>G NCBI36
NG_012490.1:g.8157A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1319A>G MANE Select ENSP00000245479.2:p.Tyr440Cys
ENST00000245479.2:c.1319A>G ENSP00000245479.2:p.Tyr440Cys
NM_000346.3:c.1319A>G NP_000337.1:p.Tyr440Cys
NM_000346.4:c.1319A>G MANE Select NP_000337.1:p.Tyr440Cys
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