Canonical Allele Identifier: CA5528958

Gene: DDX50

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68946473G>A , CM000672.2:g.68946473G>A	GRCh38
NC_000010.10:g.70706229G>A , CM000672.1:g.70706229G>A	GRCh37
NC_000010.9:g.70376235G>A	NCBI36
NG_050683.1:g.52502G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024045.2:c.2057G>A MANE Select	NP_076950.1:p.Arg686Gln
ENST00000373585.8:c.2057G>A MANE Select	ENSP00000362687.3:p.Arg686Gln
NM_024045.1:c.2057G>A	NP_076950.1:p.Arg686Gln
ENST00000373585.7:c.2057G>A	ENSP00000362687.3:p.Arg686Gln
ENST00000466265.1:n.664G>A
ENST00000610822.1:c.2042G>A	ENSP00000479336.1:p.Arg681Gln
XM_005270148.2:c.1862G>A	XP_005270205.1:p.Arg621Gln
XM_011540143.1:c.1895G>A	XP_011538445.1:p.Arg632Gln
XM_011540144.1:c.1862G>A	XP_011538446.1:p.Arg621Gln
XM_011540144.2:c.1862G>A	XP_011538446.1:p.Arg621Gln
XM_017016626.1:c.2057G>A	XP_016872115.1:p.Arg686Gln
XM_017016627.1:c.1862G>A	XP_016872116.1:p.Arg621Gln
XM_017016628.1:c.1862G>A	XP_016872117.1:p.Arg621Gln
XM_017016630.1:c.1175G>A	XP_016872119.1:p.Arg392Gln
XM_024448162.1:c.1862G>A	XP_024303930.1:p.Arg621Gln