Canonical Allele Identifier: CA3730139

Gene: DXO

Linked Data

• dbSNP Id: rs571209078
• ExAC: 6:31937653 A / G
• gnomAD v2: 6-31937653-A-G
• gnomAD v3: 6-31969876-A-G
• gnomAD v4: 6-31969876-A-G
• MyVariant Identifiers: chr6:g.31937653A>G (hg19) ; chr6:g.31969876A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969876A>G , CM000668.2:g.31969876A>G	GRCh38
NC_000006.11:g.31937653A>G , CM000668.1:g.31937653A>G	GRCh37
NC_000006.10:g.32045632A>G	NCBI36
NG_032652.1:g.16073A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.*1T>C MANE Select	ENSP00000337759.5:n.*1T>C
ENST00000337523.9:c.*1T>C	ENSP00000337759.5:n.*1T>C
ENST00000375349.7:c.*1T>C	ENSP00000364498.3:n.*1T>C
ENST00000375356.7:c.*1T>C	ENSP00000364505.3:n.*1T>C
ENST00000473976.1:n.1964T>C
ENST00000477826.5:n.2027T>C
ENST00000478221.5:n.1073T>C
ENST00000485557.5:n.1812T>C
ENST00000491327.5:n.1329T>C
ENST00000495340.5:c.525T>C
NM_005510.3:c.*1T>C	NP_005501.2:n.*1T>C
XM_006715005.2:c.*1T>C	XP_006715068.1:n.*1T>C
XM_006715007.2:c.*1T>C	XP_006715070.1:n.*1T>C
XR_926081.1:n.1665T>C
XR_926082.1:n.1692T>C
XM_006715005.3:c.*1T>C	XP_006715068.1:n.*1T>C
XM_017010329.1:c.*1T>C	XP_016865818.1:n.*1T>C
XR_002956262.1:n.1424T>C
XR_002956263.1:n.1590T>C
XR_002956264.1:n.1490T>C
XR_926082.2:n.1432T>C
NM_005510.4:c.*1T>C MANE Select	NP_005501.2:n.*1T>C
NM_001371205.1:c.*1T>C	NP_001358134.1:n.*1T>C
NM_001371206.1:c.*1T>C	NP_001358135.1:n.*1T>C