Canonical Allele Identifier: CA566693158
Gene: DXO HGNC NCBI

Linked Data

dbSNP Id: rs1278499650
gnomAD v2: 6-31937640-C-T
gnomAD v4: 6-31969863-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969863C>T , CM000668.2:g.31969863C>T GRCh38
NC_000006.11:g.31937640C>T , CM000668.1:g.31937640C>T GRCh37
NC_000006.10:g.32045619C>T NCBI36
NG_032652.1:g.16060C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337523.10:c.*14G>A MANE Select ENSP00000337759.5:n.*14G>A
ENST00000337523.9:c.*14G>A ENSP00000337759.5:n.*14G>A
ENST00000375349.7:c.*14G>A ENSP00000364498.3:n.*14G>A
ENST00000375356.7:c.*14G>A ENSP00000364505.3:n.*14G>A
ENST00000473976.1:n.1977G>A
ENST00000477826.5:n.2040G>A
ENST00000478221.5:n.1086G>A
ENST00000485557.5:n.1825G>A
ENST00000491327.5:n.1342G>A
ENST00000495340.5:c.538G>A
NM_005510.3:c.*14G>A NP_005501.2:n.*14G>A
XM_006715005.2:c.*14G>A XP_006715068.1:n.*14G>A
XM_006715007.2:c.*14G>A XP_006715070.1:n.*14G>A
XR_926081.1:n.1678G>A
XR_926082.1:n.1705G>A
XM_006715005.3:c.*14G>A XP_006715068.1:n.*14G>A
XM_017010329.1:c.*14G>A XP_016865818.1:n.*14G>A
XR_002956262.1:n.1437G>A
XR_002956263.1:n.1603G>A
XR_002956264.1:n.1503G>A
XR_926082.2:n.1445G>A
NM_005510.4:c.*14G>A MANE Select NP_005501.2:n.*14G>A
NM_001371205.1:c.*14G>A NP_001358134.1:n.*14G>A
NM_001371206.1:c.*14G>A NP_001358135.1:n.*14G>A