Canonical Allele Identifier: CA2678079105

Gene: DXO SKIC2

Linked Data

• dbSNP Id: rs752684336
• gnomAD v4: 6-31969847-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969847G>A , CM000668.2:g.31969847G>A	GRCh38
NC_000006.11:g.31937624G>A , CM000668.1:g.31937624G>A	GRCh37
NC_000006.10:g.32045603G>A	NCBI36
NG_032652.1:g.16044G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.*30C>T (DXO) MANE Select	ENSP00000337759.5:n.*30C>T
ENST00000337523.9:c.*30C>T (DXO)	ENSP00000337759.5:n.*30C>T
ENST00000375349.7:c.*30C>T (DXO)	ENSP00000364498.3:n.*30C>T
ENST00000375356.7:c.*30C>T (DXO)	ENSP00000364505.3:n.*30C>T
ENST00000473976.1:n.1993C>T (DXO)
ENST00000477826.5:n.2056C>T (DXO)
ENST00000478221.5:n.1102C>T (DXO)
ENST00000485557.5:n.1841C>T (DXO)
ENST00000491327.5:n.1358C>T (DXO)
ENST00000495340.5:c.554C>T (DXO)
NM_005510.3:c.*30C>T (DXO)	NP_005501.2:n.*30C>T
XM_006715005.2:c.*30C>T (DXO)	XP_006715068.1:n.*30C>T
XM_006715007.2:c.*30C>T (DXO)	XP_006715070.1:n.*30C>T
XR_926081.1:n.1694C>T (DXO)
XR_926082.1:n.1721C>T (DXO)
XM_006715005.3:c.*30C>T (DXO)	XP_006715068.1:n.*30C>T
XM_017010329.1:c.*30C>T (DXO)	XP_016865818.1:n.*30C>T
XR_002956262.1:n.1453C>T (DXO)
XR_002956263.1:n.1619C>T (DXO)
XR_002956264.1:n.1519C>T (DXO)
XR_926082.2:n.1461C>T (DXO)
XR_926301.3:n.3889G>A (SKIC2)
NM_005510.4:c.*30C>T (DXO) MANE Select	NP_005501.2:n.*30C>T
NM_001371205.1:c.*30C>T (DXO)	NP_001358134.1:n.*30C>T
NM_001371206.1:c.*30C>T (DXO)	NP_001358135.1:n.*30C>T