Canonical Allele Identifier: CA400867819
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs760346231

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124011T>C , CM000679.2:g.72124011T>C GRCh38
NC_000017.10:g.70120152T>C , CM000679.1:g.70120152T>C GRCh37
NC_000017.9:g.67631747T>C NCBI36
NG_012490.1:g.7992T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1154T>C MANE Select ENSP00000245479.2:p.Leu385Pro
ENST00000245479.2:c.1154T>C ENSP00000245479.2:p.Leu385Pro
NM_000346.3:c.1154T>C NP_000337.1:p.Leu385Pro
NM_000346.4:c.1154T>C MANE Select NP_000337.1:p.Leu385Pro