Canonical Allele Identifier: CA2273926372
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123637A= , CM000679.2:g.72123637A= GRCh38
NC_000017.10:g.70119778A= , CM000679.1:g.70119778A= GRCh37
NC_000017.9:g.67631373A= NCBI36
NG_012490.1:g.7618A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.780A= MANE Select ENSP00000245479.2:p.Pro260=
ENST00000245479.2:c.780A= ENSP00000245479.2:p.Pro260=
NM_000346.3:c.780A= NP_000337.1:p.Pro260=
NM_000346.4:c.780A= MANE Select NP_000337.1:p.Pro260=