Canonical Allele Identifier: CA566693160
Gene: DXO HGNC NCBI

Linked Data

dbSNP Id: rs1350379272
gnomAD v2: 6-31937649-C-T
gnomAD v4: 6-31969872-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969872C>T , CM000668.2:g.31969872C>T GRCh38
NC_000006.11:g.31937649C>T , CM000668.1:g.31937649C>T GRCh37
NC_000006.10:g.32045628C>T NCBI36
NG_032652.1:g.16069C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337523.10:c.*5G>A MANE Select ENSP00000337759.5:n.*5G>A
ENST00000337523.9:c.*5G>A ENSP00000337759.5:n.*5G>A
ENST00000375349.7:c.*5G>A ENSP00000364498.3:n.*5G>A
ENST00000375356.7:c.*5G>A ENSP00000364505.3:n.*5G>A
ENST00000473976.1:n.1968G>A
ENST00000477826.5:n.2031G>A
ENST00000478221.5:n.1077G>A
ENST00000485557.5:n.1816G>A
ENST00000491327.5:n.1333G>A
ENST00000495340.5:c.529G>A
NM_005510.3:c.*5G>A NP_005501.2:n.*5G>A
XM_006715005.2:c.*5G>A XP_006715068.1:n.*5G>A
XM_006715007.2:c.*5G>A XP_006715070.1:n.*5G>A
XR_926081.1:n.1669G>A
XR_926082.1:n.1696G>A
XM_006715005.3:c.*5G>A XP_006715068.1:n.*5G>A
XM_017010329.1:c.*5G>A XP_016865818.1:n.*5G>A
XR_002956262.1:n.1428G>A
XR_002956263.1:n.1594G>A
XR_002956264.1:n.1494G>A
XR_926082.2:n.1436G>A
NM_005510.4:c.*5G>A MANE Select NP_005501.2:n.*5G>A
NM_001371205.1:c.*5G>A NP_001358134.1:n.*5G>A
NM_001371206.1:c.*5G>A NP_001358135.1:n.*5G>A