Canonical Allele Identifier: CA363493002

Gene: DXO

Linked Data

• gnomAD v4: 6-31969899-G-T
• MyVariant Identifiers: chr6:g.31937676G>T (hg19) ; chr6:g.31969899G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969899G>T , CM000668.2:g.31969899G>T	GRCh38
NC_000006.11:g.31937676G>T , CM000668.1:g.31937676G>T	GRCh37
NC_000006.10:g.32045655G>T	NCBI36
NG_032652.1:g.16096G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.1169C>A MANE Select	ENSP00000337759.5:p.Pro390His
ENST00000337523.9:c.1169C>A	ENSP00000337759.5:p.Pro390His
ENST00000375349.7:c.1169C>A	ENSP00000364498.3:p.Pro390His
ENST00000375356.7:c.1169C>A	ENSP00000364505.3:p.Pro390His
ENST00000473976.1:n.1941C>A
ENST00000477826.5:n.2004C>A
ENST00000478221.5:n.1050C>A
ENST00000485557.5:n.1789C>A
ENST00000491327.5:n.1306C>A
ENST00000495340.5:c.502C>A
ENST00000498357.1:n.1613C>A
NM_005510.3:c.1169C>A	NP_005501.2:p.Pro390His
XM_006715005.2:c.1169C>A	XP_006715068.1:p.Pro390His
XM_006715007.2:c.617C>A	XP_006715070.1:p.Pro206His
XR_926081.1:n.1642C>A
XR_926082.1:n.1669C>A
XM_006715005.3:c.1169C>A	XP_006715068.1:p.Pro390His
XM_017010329.1:c.617C>A	XP_016865818.1:p.Pro206His
XR_002956262.1:n.1401C>A
XR_002956263.1:n.1567C>A
XR_002956264.1:n.1467C>A
XR_926082.2:n.1409C>A
NM_005510.4:c.1169C>A MANE Select	NP_005501.2:p.Pro390His
NM_001371205.1:c.617C>A	NP_001358134.1:p.Pro206His
NM_001371206.1:c.617C>A	NP_001358135.1:p.Pro206His