Canonical Allele Identifier: CA400867963
Gene: SOX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124076T>G , CM000679.2:g.72124076T>G GRCh38
NC_000017.10:g.70120217T>G , CM000679.1:g.70120217T>G GRCh37
NC_000017.9:g.67631812T>G NCBI36
NG_012490.1:g.8057T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1219T>G MANE Select ENSP00000245479.2:p.Tyr407Asp
ENST00000245479.2:c.1219T>G ENSP00000245479.2:p.Tyr407Asp
NM_000346.3:c.1219T>G NP_000337.1:p.Tyr407Asp
NM_000346.4:c.1219T>G MANE Select NP_000337.1:p.Tyr407Asp