Canonical Allele Identifier: CA3730141

Gene: DXO

Linked Data

• dbSNP Id: rs150954621
• ExAC: 6:31937656 A / C
• gnomAD v2: 6-31937656-A-C
• gnomAD v3: 6-31969879-A-C
• gnomAD v4: 6-31969879-A-C
• MyVariant Identifiers: chr6:g.31937656A>C (hg19) ; chr6:g.31969879A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.1189T>G MANE Select	ENSP00000337759.5:p.Ter397Glu
ENST00000337523.9:c.1189T>G	ENSP00000337759.5:p.Ter397Glu
ENST00000375349.7:c.1189T>G	ENSP00000364498.3:p.Ter397Glu
ENST00000375356.7:c.1189T>G	ENSP00000364505.3:p.Ter397Glu
ENST00000473976.1:n.1961T>G
ENST00000477826.5:n.2024T>G
ENST00000478221.5:n.1070T>G
ENST00000485557.5:n.1809T>G
ENST00000491327.5:n.1326T>G
ENST00000495340.5:c.522T>G
NM_005510.3:c.1189T>G	NP_005501.2:p.Ter397Glu
XM_006715005.2:c.1189T>G	XP_006715068.1:p.Ter397Glu
XM_006715007.2:c.637T>G	XP_006715070.1:p.Ter213Glu
XR_926081.1:n.1662T>G
XR_926082.1:n.1689T>G
XM_006715005.3:c.1189T>G	XP_006715068.1:p.Ter397Glu
XM_017010329.1:c.637T>G	XP_016865818.1:p.Ter213Glu
XR_002956262.1:n.1421T>G
XR_002956263.1:n.1587T>G
XR_002956264.1:n.1487T>G
XR_926082.2:n.1429T>G
NM_005510.4:c.1189T>G MANE Select	NP_005501.2:p.Ter397Glu
NM_001371205.1:c.637T>G	NP_001358134.1:p.Ter213Glu
NM_001371206.1:c.637T>G	NP_001358135.1:p.Ter213Glu