Canonical Allele Identifier: CA2273926322

Gene: SOX9

Linked Data

• dbSNP Id: rs1908175549

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123532_72123534del , CM000679.2:g.72123532_72123534del	GRCh38
NC_000017.10:g.70119673_70119675del , CM000679.1:g.70119673_70119675del	GRCh37
NC_000017.9:g.67631268_67631270del	NCBI36
NG_012490.1:g.7513_7515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.686-11_686-9del MANE Select	ENSP00000245479.2:n.686-11_686-9del
ENST00000245479.2:c.686-11_686-9del	ENSP00000245479.2:n.686-11_686-9del
NM_000346.3:c.686-11_686-9del	NP_000337.1:n.686-11_686-9del
NM_000346.4:c.686-11_686-9del MANE Select	NP_000337.1:n.686-11_686-9del