Canonical Allele Identifier: CA2273926597
Gene: SOX9 HGNC NCBI
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1154T= MANE Select ENSP00000245479.2:p.Leu385=
ENST00000245479.2:c.1154T= ENSP00000245479.2:p.Leu385=
NM_000346.3:c.1154T= NP_000337.1:p.Leu385=
NM_000346.4:c.1154T= MANE Select NP_000337.1:p.Leu385=
Search 100 bp 5'
Search 100 bp 3'