Canonical Allele Identifier: CA2678079093

Linked Data

gnomAD v4: 6-31969836-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969836A>T , CM000668.2:g.31969836A>T GRCh38
NC_000006.11:g.31937613A>T , CM000668.1:g.31937613A>T GRCh37
NC_000006.10:g.32045592A>T NCBI36
NG_032652.1:g.16033A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337523.10:c.*41T>A (DXO) MANE Select ENSP00000337759.5:n.*41T>A
ENST00000337523.9:c.*41T>A (DXO) ENSP00000337759.5:n.*41T>A
ENST00000375349.7:c.*41T>A (DXO) ENSP00000364498.3:n.*41T>A
ENST00000473976.1:n.2004T>A (DXO)
ENST00000477826.5:n.2067T>A (DXO)
ENST00000478221.5:n.1113T>A (DXO)
ENST00000485557.5:n.1852T>A (DXO)
ENST00000491327.5:n.1369T>A (DXO)
ENST00000495340.5:c.565T>A (DXO)
NM_005510.3:c.*41T>A (DXO) NP_005501.2:n.*41T>A
XM_006715005.2:c.*41T>A (DXO) XP_006715068.1:n.*41T>A
XM_006715007.2:c.*41T>A (DXO) XP_006715070.1:n.*41T>A
XR_926081.1:n.1705T>A (DXO)
XR_926082.1:n.1732T>A (DXO)
XM_006715005.3:c.*41T>A (DXO) XP_006715068.1:n.*41T>A
XM_017010329.1:c.*41T>A (DXO) XP_016865818.1:n.*41T>A
XR_002956262.1:n.1464T>A (DXO)
XR_002956263.1:n.1630T>A (DXO)
XR_002956264.1:n.1530T>A (DXO)
XR_926082.2:n.1472T>A (DXO)
XR_926301.3:n.3878A>T (SKIC2)
NM_005510.4:c.*41T>A (DXO) MANE Select NP_005501.2:n.*41T>A
NM_001371205.1:c.*41T>A (DXO) NP_001358134.1:n.*41T>A
NM_001371206.1:c.*41T>A (DXO) NP_001358135.1:n.*41T>A