Canonical Allele Identifier: CA363492837
Gene: DXO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969879A>T , CM000668.2:g.31969879A>T GRCh38
NC_000006.11:g.31937656A>T , CM000668.1:g.31937656A>T GRCh37
NC_000006.10:g.32045635A>T NCBI36
NG_032652.1:g.16076A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337523.10:c.1189T>A MANE Select ENSP00000337759.5:p.Ter397Lys
ENST00000337523.9:c.1189T>A ENSP00000337759.5:p.Ter397Lys
ENST00000375349.7:c.1189T>A ENSP00000364498.3:p.Ter397Lys
ENST00000375356.7:c.1189T>A ENSP00000364505.3:p.Ter397Lys
ENST00000473976.1:n.1961T>A
ENST00000477826.5:n.2024T>A
ENST00000478221.5:n.1070T>A
ENST00000485557.5:n.1809T>A
ENST00000491327.5:n.1326T>A
ENST00000495340.5:c.522T>A
NM_005510.3:c.1189T>A NP_005501.2:p.Ter397Lys
XM_006715005.2:c.1189T>A XP_006715068.1:p.Ter397Lys
XM_006715007.2:c.637T>A XP_006715070.1:p.Ter213Lys
XR_926081.1:n.1662T>A
XR_926082.1:n.1689T>A
XM_006715005.3:c.1189T>A XP_006715068.1:p.Ter397Lys
XM_017010329.1:c.637T>A XP_016865818.1:p.Ter213Lys
XR_002956262.1:n.1421T>A
XR_002956263.1:n.1587T>A
XR_002956264.1:n.1487T>A
XR_926082.2:n.1429T>A
NM_005510.4:c.1189T>A MANE Select NP_005501.2:p.Ter397Lys
NM_001371205.1:c.637T>A NP_001358134.1:p.Ter213Lys
NM_001371206.1:c.637T>A NP_001358135.1:p.Ter213Lys