Canonical Allele Identifier: CA2273926302
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123501C= , CM000679.2:g.72123501C= GRCh38
NC_000017.10:g.70119642C= , CM000679.1:g.70119642C= GRCh37
NC_000017.9:g.67631237C= NCBI36
NG_012490.1:g.7482C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-42C= MANE Select ENSP00000245479.2:n.686-42C=
ENST00000245479.2:c.686-42C= ENSP00000245479.2:n.686-42C=
NM_000346.3:c.686-42C= NP_000337.1:n.686-42C=
NM_000346.4:c.686-42C= MANE Select NP_000337.1:n.686-42C=