Canonical Allele Identifier: CA1087494796

Gene: DXO SKIC2

Linked Data

• dbSNP Id: rs1359241436
• gnomAD v3: 6-31969850-A-G
• gnomAD v4: 6-31969850-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969850A>G , CM000668.2:g.31969850A>G	GRCh38
NC_000006.11:g.31937627A>G , CM000668.1:g.31937627A>G	GRCh37
NC_000006.10:g.32045606A>G	NCBI36
NG_032652.1:g.16047A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.*27T>C (DXO) MANE Select	ENSP00000337759.5:n.*27T>C
ENST00000337523.9:c.*27T>C (DXO)	ENSP00000337759.5:n.*27T>C
ENST00000375349.7:c.*27T>C (DXO)	ENSP00000364498.3:n.*27T>C
ENST00000375356.7:c.*27T>C (DXO)	ENSP00000364505.3:n.*27T>C
ENST00000473976.1:n.1990T>C (DXO)
ENST00000477826.5:n.2053T>C (DXO)
ENST00000478221.5:n.1099T>C (DXO)
ENST00000485557.5:n.1838T>C (DXO)
ENST00000491327.5:n.1355T>C (DXO)
ENST00000495340.5:c.551T>C (DXO)
NM_005510.3:c.*27T>C (DXO)	NP_005501.2:n.*27T>C
XM_006715005.2:c.*27T>C (DXO)	XP_006715068.1:n.*27T>C
XM_006715007.2:c.*27T>C (DXO)	XP_006715070.1:n.*27T>C
XR_926081.1:n.1691T>C (DXO)
XR_926082.1:n.1718T>C (DXO)
XM_006715005.3:c.*27T>C (DXO)	XP_006715068.1:n.*27T>C
XM_017010329.1:c.*27T>C (DXO)	XP_016865818.1:n.*27T>C
XR_002956262.1:n.1450T>C (DXO)
XR_002956263.1:n.1616T>C (DXO)
XR_002956264.1:n.1516T>C (DXO)
XR_926082.2:n.1458T>C (DXO)
XR_926301.3:n.3892A>G (SKIC2)
NM_005510.4:c.*27T>C (DXO) MANE Select	NP_005501.2:n.*27T>C
NM_001371205.1:c.*27T>C (DXO)	NP_001358134.1:n.*27T>C
NM_001371206.1:c.*27T>C (DXO)	NP_001358135.1:n.*27T>C