Canonical Allele Identifier: CA400867929
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143255493

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124062T>A , CM000679.2:g.72124062T>A GRCh38
NC_000017.10:g.70120203T>A , CM000679.1:g.70120203T>A GRCh37
NC_000017.9:g.67631798T>A NCBI36
NG_012490.1:g.8043T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1205T>A MANE Select ENSP00000245479.2:p.Leu402Gln
ENST00000245479.2:c.1205T>A ENSP00000245479.2:p.Leu402Gln
NM_000346.3:c.1205T>A NP_000337.1:p.Leu402Gln
NM_000346.4:c.1205T>A MANE Select NP_000337.1:p.Leu402Gln