Canonical Allele Identifier: CA363492947

Gene: DXO

Linked Data

• MyVariant Identifiers: chr6:g.31937672C>G (hg19) ; chr6:g.31969895C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969895C>G , CM000668.2:g.31969895C>G	GRCh38
NC_000006.11:g.31937672C>G , CM000668.1:g.31937672C>G	GRCh37
NC_000006.10:g.32045651C>G	NCBI36
NG_032652.1:g.16092C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.1173G>C MANE Select	ENSP00000337759.5:p.Lys391Asn
ENST00000337523.9:c.1173G>C	ENSP00000337759.5:p.Lys391Asn
ENST00000375349.7:c.1173G>C	ENSP00000364498.3:p.Lys391Asn
ENST00000375356.7:c.1173G>C	ENSP00000364505.3:p.Lys391Asn
ENST00000473976.1:n.1945G>C
ENST00000477826.5:n.2008G>C
ENST00000478221.5:n.1054G>C
ENST00000485557.5:n.1793G>C
ENST00000491327.5:n.1310G>C
ENST00000495340.5:c.506G>C
ENST00000498357.1:n.1617G>C
NM_005510.3:c.1173G>C	NP_005501.2:p.Lys391Asn
XM_006715005.2:c.1173G>C	XP_006715068.1:p.Lys391Asn
XM_006715007.2:c.621G>C	XP_006715070.1:p.Lys207Asn
XR_926081.1:n.1646G>C
XR_926082.1:n.1673G>C
XM_006715005.3:c.1173G>C	XP_006715068.1:p.Lys391Asn
XM_017010329.1:c.621G>C	XP_016865818.1:p.Lys207Asn
XR_002956262.1:n.1405G>C
XR_002956263.1:n.1571G>C
XR_002956264.1:n.1471G>C
XR_926082.2:n.1413G>C
NM_005510.4:c.1173G>C MANE Select	NP_005501.2:p.Lys391Asn
NM_001371205.1:c.621G>C	NP_001358134.1:p.Lys207Asn
NM_001371206.1:c.621G>C	NP_001358135.1:p.Lys207Asn