Canonical Allele Identifier: CA3730145

Gene: DXO

Linked Data

• dbSNP Id: rs192273589
• ExAC: 6:31937677 G / A
• gnomAD v2: 6-31937677-G-A
• gnomAD v3: 6-31969900-G-A
• gnomAD v4: 6-31969900-G-A
• MyVariant Identifiers: chr6:g.31937677G>A (hg19) ; chr6:g.31969900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969900G>A , CM000668.2:g.31969900G>A	GRCh38
NC_000006.11:g.31937677G>A , CM000668.1:g.31937677G>A	GRCh37
NC_000006.10:g.32045656G>A	NCBI36
NG_032652.1:g.16097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.1168C>T MANE Select	ENSP00000337759.5:p.Pro390Ser
ENST00000337523.9:c.1168C>T	ENSP00000337759.5:p.Pro390Ser
ENST00000375349.7:c.1168C>T	ENSP00000364498.3:p.Pro390Ser
ENST00000375356.7:c.1168C>T	ENSP00000364505.3:p.Pro390Ser
ENST00000473976.1:n.1940C>T
ENST00000477826.5:n.2003C>T
ENST00000478221.5:n.1049C>T
ENST00000485557.5:n.1788C>T
ENST00000491327.5:n.1305C>T
ENST00000495340.5:c.501C>T
ENST00000498357.1:n.1612C>T
NM_005510.3:c.1168C>T	NP_005501.2:p.Pro390Ser
XM_006715005.2:c.1168C>T	XP_006715068.1:p.Pro390Ser
XM_006715007.2:c.616C>T	XP_006715070.1:p.Pro206Ser
XR_926081.1:n.1641C>T
XR_926082.1:n.1668C>T
XM_006715005.3:c.1168C>T	XP_006715068.1:p.Pro390Ser
XM_017010329.1:c.616C>T	XP_016865818.1:p.Pro206Ser
XR_002956262.1:n.1400C>T
XR_002956263.1:n.1566C>T
XR_002956264.1:n.1466C>T
XR_926082.2:n.1408C>T
NM_005510.4:c.1168C>T MANE Select	NP_005501.2:p.Pro390Ser
NM_001371205.1:c.616C>T	NP_001358134.1:p.Pro206Ser
NM_001371206.1:c.616C>T	NP_001358135.1:p.Pro206Ser