Canonical Allele Identifier: CA3730135

Gene: DXO

Linked Data

• dbSNP Id: rs142555775
• ExAC: 6:31937630 T / G
• gnomAD v2: 6-31937630-T-G
• gnomAD v3: 6-31969853-T-G
• gnomAD v4: 6-31969853-T-G
• MyVariant Identifiers: chr6:g.31937630T>G (hg19) ; chr6:g.31969853T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969853T>G , CM000668.2:g.31969853T>G	GRCh38
NC_000006.11:g.31937630T>G , CM000668.1:g.31937630T>G	GRCh37
NC_000006.10:g.32045609T>G	NCBI36
NG_032652.1:g.16050T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.*24A>C MANE Select	ENSP00000337759.5:n.*24A>C
ENST00000337523.9:c.*24A>C	ENSP00000337759.5:n.*24A>C
ENST00000375349.7:c.*24A>C	ENSP00000364498.3:n.*24A>C
ENST00000375356.7:c.*24A>C	ENSP00000364505.3:n.*24A>C
ENST00000473976.1:n.1987A>C
ENST00000477826.5:n.2050A>C
ENST00000478221.5:n.1096A>C
ENST00000485557.5:n.1835A>C
ENST00000491327.5:n.1352A>C
ENST00000495340.5:c.548A>C
NM_005510.3:c.*24A>C	NP_005501.2:n.*24A>C
XM_006715005.2:c.*24A>C	XP_006715068.1:n.*24A>C
XM_006715007.2:c.*24A>C	XP_006715070.1:n.*24A>C
XR_926081.1:n.1688A>C
XR_926082.1:n.1715A>C
XM_006715005.3:c.*24A>C	XP_006715068.1:n.*24A>C
XM_017010329.1:c.*24A>C	XP_016865818.1:n.*24A>C
XR_002956262.1:n.1447A>C
XR_002956263.1:n.1613A>C
XR_002956264.1:n.1513A>C
XR_926082.2:n.1455A>C
NM_005510.4:c.*24A>C MANE Select	NP_005501.2:n.*24A>C
NM_001371205.1:c.*24A>C	NP_001358134.1:n.*24A>C
NM_001371206.1:c.*24A>C	NP_001358135.1:n.*24A>C