Canonical Allele Identifier: CA449814216

Gene: DXO

Linked Data

• dbSNP Id: rs1773086379
• gnomAD v4: 6-31969886-A-G
• MyVariant Identifiers: chr6:g.31937663A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969886A>G , CM000668.2:g.31969886A>G	GRCh38
NC_000006.11:g.31937663A>G , CM000668.1:g.31937663A>G	GRCh37
NC_000006.10:g.32045642A>G	NCBI36
NG_032652.1:g.16083A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.1182T>C MANE Select	ENSP00000337759.5:p.Ser394=
ENST00000337523.9:c.1182T>C	ENSP00000337759.5:p.Ser394=
ENST00000375349.7:c.1182T>C	ENSP00000364498.3:p.Ser394=
ENST00000375356.7:c.1182T>C	ENSP00000364505.3:p.Ser394=
ENST00000473976.1:n.1954T>C
ENST00000477826.5:n.2017T>C
ENST00000478221.5:n.1063T>C
ENST00000485557.5:n.1802T>C
ENST00000491327.5:n.1319T>C
ENST00000495340.5:c.515T>C
NM_005510.3:c.1182T>C	NP_005501.2:p.Ser394=
XM_006715005.2:c.1182T>C	XP_006715068.1:p.Ser394=
XM_006715007.2:c.630T>C	XP_006715070.1:p.Ser210=
XR_926081.1:n.1655T>C
XR_926082.1:n.1682T>C
XM_006715005.3:c.1182T>C	XP_006715068.1:p.Ser394=
XM_017010329.1:c.630T>C	XP_016865818.1:p.Ser210=
XR_002956262.1:n.1414T>C
XR_002956263.1:n.1580T>C
XR_002956264.1:n.1480T>C
XR_926082.2:n.1422T>C
NM_005510.4:c.1182T>C MANE Select	NP_005501.2:p.Ser394=
NM_001371205.1:c.630T>C	NP_001358134.1:p.Ser210=
NM_001371206.1:c.630T>C	NP_001358135.1:p.Ser210=