Canonical Allele Identifier: CA2273925639
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122306G= , CM000679.2:g.72122306G= GRCh38
NC_000017.10:g.70118447G= , CM000679.1:g.70118447G= GRCh37
NC_000017.9:g.67630042G= NCBI36
NG_012490.1:g.6287G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-413G= MANE Select ENSP00000245479.2:n.432-413G=
ENST00000245479.2:c.432-413G= ENSP00000245479.2:n.432-413G=
NM_000346.3:c.432-413G= NP_000337.1:n.432-413G=
NM_000346.4:c.432-413G= MANE Select NP_000337.1:n.432-413G=