Canonical Allele Identifier: CA400867159
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143251504

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123699A>G , CM000679.2:g.72123699A>G GRCh38
NC_000017.10:g.70119840A>G , CM000679.1:g.70119840A>G GRCh37
NC_000017.9:g.67631435A>G NCBI36
NG_012490.1:g.7680A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.842A>G MANE Select ENSP00000245479.2:p.Asp281Gly
ENST00000245479.2:c.842A>G ENSP00000245479.2:p.Asp281Gly
NM_000346.3:c.842A>G NP_000337.1:p.Asp281Gly
NM_000346.4:c.842A>G MANE Select NP_000337.1:p.Asp281Gly