Canonical Allele Identifier: CA449814222

Gene: DXO

Linked Data

• dbSNP Id: rs1459754537
• gnomAD v2: 6-31937666-G-T
• gnomAD v3: 6-31969889-G-T
• gnomAD v4: 6-31969889-G-T
• MyVariant Identifiers: chr6:g.31937666G>T (hg19) ; chr6:g.31969889G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969889G>T , CM000668.2:g.31969889G>T	GRCh38
NC_000006.11:g.31937666G>T , CM000668.1:g.31937666G>T	GRCh37
NC_000006.10:g.32045645G>T	NCBI36
NG_032652.1:g.16086G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.1179C>A MANE Select	ENSP00000337759.5:p.Pro393=
ENST00000337523.9:c.1179C>A	ENSP00000337759.5:p.Pro393=
ENST00000375349.7:c.1179C>A	ENSP00000364498.3:p.Pro393=
ENST00000375356.7:c.1179C>A	ENSP00000364505.3:p.Pro393=
ENST00000473976.1:n.1951C>A
ENST00000477826.5:n.2014C>A
ENST00000478221.5:n.1060C>A
ENST00000485557.5:n.1799C>A
ENST00000491327.5:n.1316C>A
ENST00000495340.5:c.512C>A
ENST00000498357.1:n.1623C>A
NM_005510.3:c.1179C>A	NP_005501.2:p.Pro393=
XM_006715005.2:c.1179C>A	XP_006715068.1:p.Pro393=
XM_006715007.2:c.627C>A	XP_006715070.1:p.Pro209=
XR_926081.1:n.1652C>A
XR_926082.1:n.1679C>A
XM_006715005.3:c.1179C>A	XP_006715068.1:p.Pro393=
XM_017010329.1:c.627C>A	XP_016865818.1:p.Pro209=
XR_002956262.1:n.1411C>A
XR_002956263.1:n.1577C>A
XR_002956264.1:n.1477C>A
XR_926082.2:n.1419C>A
NM_005510.4:c.1179C>A MANE Select	NP_005501.2:p.Pro393=
NM_001371205.1:c.627C>A	NP_001358134.1:p.Pro209=
NM_001371206.1:c.627C>A	NP_001358135.1:p.Pro209=