Canonical Allele Identifier: CA2678079106

Gene: DXO SKIC2

Linked Data

• gnomAD v4: 6-31969848-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969848A>C , CM000668.2:g.31969848A>C	GRCh38
NC_000006.11:g.31937625A>C , CM000668.1:g.31937625A>C	GRCh37
NC_000006.10:g.32045604A>C	NCBI36
NG_032652.1:g.16045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.*29T>G (DXO) MANE Select	ENSP00000337759.5:n.*29T>G
ENST00000337523.9:c.*29T>G (DXO)	ENSP00000337759.5:n.*29T>G
ENST00000375349.7:c.*29T>G (DXO)	ENSP00000364498.3:n.*29T>G
ENST00000375356.7:c.*29T>G (DXO)	ENSP00000364505.3:n.*29T>G
ENST00000473976.1:n.1992T>G (DXO)
ENST00000477826.5:n.2055T>G (DXO)
ENST00000478221.5:n.1101T>G (DXO)
ENST00000485557.5:n.1840T>G (DXO)
ENST00000491327.5:n.1357T>G (DXO)
ENST00000495340.5:c.553T>G (DXO)
NM_005510.3:c.*29T>G (DXO)	NP_005501.2:n.*29T>G
XM_006715005.2:c.*29T>G (DXO)	XP_006715068.1:n.*29T>G
XM_006715007.2:c.*29T>G (DXO)	XP_006715070.1:n.*29T>G
XR_926081.1:n.1693T>G (DXO)
XR_926082.1:n.1720T>G (DXO)
XM_006715005.3:c.*29T>G (DXO)	XP_006715068.1:n.*29T>G
XM_017010329.1:c.*29T>G (DXO)	XP_016865818.1:n.*29T>G
XR_002956262.1:n.1452T>G (DXO)
XR_002956263.1:n.1618T>G (DXO)
XR_002956264.1:n.1518T>G (DXO)
XR_926082.2:n.1460T>G (DXO)
XR_926301.3:n.3890A>C (SKIC2)
NM_005510.4:c.*29T>G (DXO) MANE Select	NP_005501.2:n.*29T>G
NM_001371205.1:c.*29T>G (DXO)	NP_001358134.1:n.*29T>G
NM_001371206.1:c.*29T>G (DXO)	NP_001358135.1:n.*29T>G