Canonical Allele Identifier: CA400867076
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143251181

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123662G>C , CM000679.2:g.72123662G>C GRCh38
NC_000017.10:g.70119803G>C , CM000679.1:g.70119803G>C GRCh37
NC_000017.9:g.67631398G>C NCBI36
NG_012490.1:g.7643G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.805G>C MANE Select ENSP00000245479.2:p.Asp269His
ENST00000245479.2:c.805G>C ENSP00000245479.2:p.Asp269His
NM_000346.3:c.805G>C NP_000337.1:p.Asp269His
NM_000346.4:c.805G>C MANE Select NP_000337.1:p.Asp269His