Canonical Allele Identifier: CA400866936
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143250510

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123591T>G , CM000679.2:g.72123591T>G GRCh38
NC_000017.10:g.70119732T>G , CM000679.1:g.70119732T>G GRCh37
NC_000017.9:g.67631327T>G NCBI36
NG_012490.1:g.7572T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.734T>G MANE Select ENSP00000245479.2:p.Val245Gly
ENST00000245479.2:c.734T>G ENSP00000245479.2:p.Val245Gly
NM_000346.3:c.734T>G NP_000337.1:p.Val245Gly
NM_000346.4:c.734T>G MANE Select NP_000337.1:p.Val245Gly