Canonical Allele Identifier: CA363492890

Gene: DXO

Linked Data

• MyVariant Identifiers: chr6:g.31937664G>A (hg19) ; chr6:g.31969887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969887G>A , CM000668.2:g.31969887G>A	GRCh38
NC_000006.11:g.31937664G>A , CM000668.1:g.31937664G>A	GRCh37
NC_000006.10:g.32045643G>A	NCBI36
NG_032652.1:g.16084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.1181C>T MANE Select	ENSP00000337759.5:p.Ser394Phe
ENST00000337523.9:c.1181C>T	ENSP00000337759.5:p.Ser394Phe
ENST00000375349.7:c.1181C>T	ENSP00000364498.3:p.Ser394Phe
ENST00000375356.7:c.1181C>T	ENSP00000364505.3:p.Ser394Phe
ENST00000473976.1:n.1953C>T
ENST00000477826.5:n.2016C>T
ENST00000478221.5:n.1062C>T
ENST00000485557.5:n.1801C>T
ENST00000491327.5:n.1318C>T
ENST00000495340.5:c.514C>T
ENST00000498357.1:n.1625C>T
NM_005510.3:c.1181C>T	NP_005501.2:p.Ser394Phe
XM_006715005.2:c.1181C>T	XP_006715068.1:p.Ser394Phe
XM_006715007.2:c.629C>T	XP_006715070.1:p.Ser210Phe
XR_926081.1:n.1654C>T
XR_926082.1:n.1681C>T
XM_006715005.3:c.1181C>T	XP_006715068.1:p.Ser394Phe
XM_017010329.1:c.629C>T	XP_016865818.1:p.Ser210Phe
XR_002956262.1:n.1413C>T
XR_002956263.1:n.1579C>T
XR_002956264.1:n.1479C>T
XR_926082.2:n.1421C>T
NM_005510.4:c.1181C>T MANE Select	NP_005501.2:p.Ser394Phe
NM_001371205.1:c.629C>T	NP_001358134.1:p.Ser210Phe
NM_001371206.1:c.629C>T	NP_001358135.1:p.Ser210Phe