Canonical Allele Identifier: CA3730131

Gene: DXO SKIC2

Linked Data

• dbSNP Id: rs369082949
• ExAC: 6:31937605 C / T
• gnomAD v2: 6-31937605-C-T
• gnomAD v3: 6-31969828-C-T
• gnomAD v4: 6-31969828-C-T
• MyVariant Identifiers: chr6:g.31937605C>T (hg19) ; chr6:g.31969828C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969828C>T , CM000668.2:g.31969828C>T	GRCh38
NC_000006.11:g.31937605C>T , CM000668.1:g.31937605C>T	GRCh37
NC_000006.10:g.32045584C>T	NCBI36
NG_032652.1:g.16025C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.*49G>A (DXO) MANE Select	ENSP00000337759.5:n.*49G>A
ENST00000337523.9:c.*49G>A (DXO)	ENSP00000337759.5:n.*49G>A
ENST00000375349.7:c.*49G>A (DXO)	ENSP00000364498.3:n.*49G>A
ENST00000473976.1:n.2012G>A (DXO)
ENST00000477826.5:n.2075G>A (DXO)
ENST00000478221.5:n.1121G>A (DXO)
ENST00000485557.5:n.1860G>A (DXO)
ENST00000491327.5:n.1377G>A (DXO)
ENST00000495340.5:c.573G>A (DXO)
NM_005510.3:c.*49G>A (DXO)	NP_005501.2:n.*49G>A
XM_006715005.2:c.*49G>A (DXO)	XP_006715068.1:n.*49G>A
XM_006715007.2:c.*49G>A (DXO)	XP_006715070.1:n.*49G>A
XR_926081.1:n.1713G>A (DXO)
XR_926082.1:n.1740G>A (DXO)
XM_006715005.3:c.*49G>A (DXO)	XP_006715068.1:n.*49G>A
XM_017010329.1:c.*49G>A (DXO)	XP_016865818.1:n.*49G>A
XR_002956262.1:n.1472G>A (DXO)
XR_002956263.1:n.1638G>A (DXO)
XR_002956264.1:n.1538G>A (DXO)
XR_926082.2:n.1480G>A (DXO)
XR_926301.3:n.3870C>T (SKIC2)
NM_005510.4:c.*49G>A (DXO) MANE Select	NP_005501.2:n.*49G>A
NM_001371205.1:c.*49G>A (DXO)	NP_001358134.1:n.*49G>A
NM_001371206.1:c.*49G>A (DXO)	NP_001358135.1:n.*49G>A