Canonical Allele Identifier: CA3730143

Gene: DXO

Linked Data

• dbSNP Id: rs553455420
• ExAC: 6:31937675 G / T
• gnomAD v2: 6-31937675-G-T
• gnomAD v3: 6-31969898-G-T
• gnomAD v4: 6-31969898-G-T
• MyVariant Identifiers: chr6:g.31937675G>T (hg19) ; chr6:g.31969898G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969898G>T , CM000668.2:g.31969898G>T	GRCh38
NC_000006.11:g.31937675G>T , CM000668.1:g.31937675G>T	GRCh37
NC_000006.10:g.32045654G>T	NCBI36
NG_032652.1:g.16095G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.1170C>A MANE Select	ENSP00000337759.5:p.Pro390=
ENST00000337523.9:c.1170C>A	ENSP00000337759.5:p.Pro390=
ENST00000375349.7:c.1170C>A	ENSP00000364498.3:p.Pro390=
ENST00000375356.7:c.1170C>A	ENSP00000364505.3:p.Pro390=
ENST00000473976.1:n.1942C>A
ENST00000477826.5:n.2005C>A
ENST00000478221.5:n.1051C>A
ENST00000485557.5:n.1790C>A
ENST00000491327.5:n.1307C>A
ENST00000495340.5:c.503C>A
ENST00000498357.1:n.1614C>A
NM_005510.3:c.1170C>A	NP_005501.2:p.Pro390=
XM_006715005.2:c.1170C>A	XP_006715068.1:p.Pro390=
XM_006715007.2:c.618C>A	XP_006715070.1:p.Pro206=
XR_926081.1:n.1643C>A
XR_926082.1:n.1670C>A
XM_006715005.3:c.1170C>A	XP_006715068.1:p.Pro390=
XM_017010329.1:c.618C>A	XP_016865818.1:p.Pro206=
XR_002956262.1:n.1402C>A
XR_002956263.1:n.1568C>A
XR_002956264.1:n.1468C>A
XR_926082.2:n.1410C>A
NM_005510.4:c.1170C>A MANE Select	NP_005501.2:p.Pro390=
NM_001371205.1:c.618C>A	NP_001358134.1:p.Pro206=
NM_001371206.1:c.618C>A	NP_001358135.1:p.Pro206=