Canonical Allele Identifier: CA400866552
Gene: SOX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122843C>A , CM000679.2:g.72122843C>A GRCh38
NC_000017.10:g.70118984C>A , CM000679.1:g.70118984C>A GRCh37
NC_000017.9:g.67630579C>A NCBI36
NG_012490.1:g.6824C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.556C>A MANE Select ENSP00000245479.2:p.Gln186Lys
ENST00000245479.2:c.556C>A ENSP00000245479.2:p.Gln186Lys
NM_000346.3:c.556C>A NP_000337.1:p.Gln186Lys
NM_000346.4:c.556C>A MANE Select NP_000337.1:p.Gln186Lys