Canonical Allele Identifier: CA2734006303
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143256265

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124139del , CM000679.2:g.72124139del GRCh38
NC_000017.10:g.70120280del , CM000679.1:g.70120280del GRCh37
NC_000017.9:g.67631875del NCBI36
NG_012490.1:g.8120del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1282del MANE Select ENSP00000245479.2:p.Tyr428ThrfsTer?
ENST00000245479.2:c.1282del ENSP00000245479.2:p.Tyr428ThrfsTer?
NM_000346.3:c.1282del NP_000337.1:p.Tyr428ThrfsTer?
NM_000346.4:c.1282del MANE Select NP_000337.1:p.Tyr428ThrfsTer?