Canonical Allele Identifier: CA400868352
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143257567

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124250A>G , CM000679.2:g.72124250A>G GRCh38
NC_000017.10:g.70120391A>G , CM000679.1:g.70120391A>G GRCh37
NC_000017.9:g.67631986A>G NCBI36
NG_012490.1:g.8231A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1393A>G MANE Select ENSP00000245479.2:p.Thr465Ala
ENST00000245479.2:c.1393A>G ENSP00000245479.2:p.Thr465Ala
NM_000346.3:c.1393A>G NP_000337.1:p.Thr465Ala
NM_000346.4:c.1393A>G MANE Select NP_000337.1:p.Thr465Ala