Canonical Allele Identifier: CA3730144
Gene: DXO HGNC NCBI

Linked Data

dbSNP Id: rs766101164
gnomAD v2: 6-31937676-G-C
gnomAD v3: 6-31969899-G-C
gnomAD v4: 6-31969899-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969899G>C , CM000668.2:g.31969899G>C GRCh38
NC_000006.11:g.31937676G>C , CM000668.1:g.31937676G>C GRCh37
NC_000006.10:g.32045655G>C NCBI36
NG_032652.1:g.16096G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337523.10:c.1169C>G MANE Select ENSP00000337759.5:p.Pro390Arg
ENST00000337523.9:c.1169C>G ENSP00000337759.5:p.Pro390Arg
ENST00000375349.7:c.1169C>G ENSP00000364498.3:p.Pro390Arg
ENST00000375356.7:c.1169C>G ENSP00000364505.3:p.Pro390Arg
ENST00000473976.1:n.1941C>G
ENST00000477826.5:n.2004C>G
ENST00000478221.5:n.1050C>G
ENST00000485557.5:n.1789C>G
ENST00000491327.5:n.1306C>G
ENST00000495340.5:c.502C>G
ENST00000498357.1:n.1613C>G
NM_005510.3:c.1169C>G NP_005501.2:p.Pro390Arg
XM_006715005.2:c.1169C>G XP_006715068.1:p.Pro390Arg
XM_006715007.2:c.617C>G XP_006715070.1:p.Pro206Arg
XR_926081.1:n.1642C>G
XR_926082.1:n.1669C>G
XM_006715005.3:c.1169C>G XP_006715068.1:p.Pro390Arg
XM_017010329.1:c.617C>G XP_016865818.1:p.Pro206Arg
XR_002956262.1:n.1401C>G
XR_002956263.1:n.1567C>G
XR_002956264.1:n.1467C>G
XR_926082.2:n.1409C>G
NM_005510.4:c.1169C>G MANE Select NP_005501.2:p.Pro390Arg
NM_001371205.1:c.617C>G NP_001358134.1:p.Pro206Arg
NM_001371206.1:c.617C>G NP_001358135.1:p.Pro206Arg