Canonical Allele Identifier: CA400867005
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143250906

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123624G>T , CM000679.2:g.72123624G>T GRCh38
NC_000017.10:g.70119765G>T , CM000679.1:g.70119765G>T GRCh37
NC_000017.9:g.67631360G>T NCBI36
NG_012490.1:g.7605G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.767G>T MANE Select ENSP00000245479.2:p.Gly256Val
ENST00000245479.2:c.767G>T ENSP00000245479.2:p.Gly256Val
NM_000346.3:c.767G>T NP_000337.1:p.Gly256Val
NM_000346.4:c.767G>T MANE Select NP_000337.1:p.Gly256Val