Canonical Allele Identifier: CA1619384510

Linked Data

dbSNP Id: rs1773077218

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969818T>A , CM000668.2:g.31969818T>A GRCh38
NC_000006.11:g.31937595T>A , CM000668.1:g.31937595T>A GRCh37
NC_000006.10:g.32045574T>A NCBI36
NG_032652.1:g.16015T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2892T>A (SKIC2) ENSP00000419905.1:n.*2892T>A
ENST00000337523.10:c.*59A>T (DXO) MANE Select ENSP00000337759.5:n.*59A>T
ENST00000337523.9:c.*59A>T (DXO) ENSP00000337759.5:n.*59A>T
ENST00000375349.7:c.*59A>T (DXO) ENSP00000364498.3:n.*59A>T
ENST00000473976.1:n.2022A>T (DXO)
ENST00000477826.5:n.2085A>T (DXO)
ENST00000478221.5:n.1131A>T (DXO)
ENST00000485557.5:n.1870A>T (DXO)
ENST00000491327.5:n.1387A>T (DXO)
ENST00000495340.5:c.583A>T (DXO)
NM_005510.3:c.*59A>T (DXO) NP_005501.2:n.*59A>T
XM_006715005.2:c.*59A>T (DXO) XP_006715068.1:n.*59A>T
XM_006715007.2:c.*59A>T (DXO) XP_006715070.1:n.*59A>T
XR_926081.1:n.1723A>T (DXO)
XR_926082.1:n.1750A>T (DXO)
XM_006715005.3:c.*59A>T (DXO) XP_006715068.1:n.*59A>T
XM_017010329.1:c.*59A>T (DXO) XP_016865818.1:n.*59A>T
XR_002956262.1:n.1482A>T (DXO)
XR_002956263.1:n.1648A>T (DXO)
XR_002956264.1:n.1548A>T (DXO)
XR_926082.2:n.1490A>T (DXO)
XR_926301.3:n.3860T>A (SKIC2)
NM_005510.4:c.*59A>T (DXO) MANE Select NP_005501.2:n.*59A>T
NM_001371205.1:c.*59A>T (DXO) NP_001358134.1:n.*59A>T
NM_001371206.1:c.*59A>T (DXO) NP_001358135.1:n.*59A>T