Canonical Allele Identifier: CA2273925923
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122822A= , CM000679.2:g.72122822A= GRCh38
NC_000017.10:g.70118963A= , CM000679.1:g.70118963A= GRCh37
NC_000017.9:g.67630558A= NCBI36
NG_012490.1:g.6803A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.535A= MANE Select ENSP00000245479.2:p.Arg179=
ENST00000245479.2:c.535A= ENSP00000245479.2:p.Arg179=
NM_000346.3:c.535A= NP_000337.1:p.Arg179=
NM_000346.4:c.535A= MANE Select NP_000337.1:p.Arg179=