Canonical Allele Identifier: CA358665
Community Standard Title: NM_016222.4(DDX41):c.490C>T (p.Arg164Trp)
Gene: DDX41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177515766G>A , CM000667.2:g.177515766G>A GRCh38
NC_000005.9:g.176942767G>A , CM000667.1:g.176942767G>A GRCh37
NC_000005.8:g.176875373G>A NCBI36
NG_046846.1:g.6561C>T
NG_046846.2:g.6196C>T

Transcript Alleles

HGVS Amino-acid Change
NM_016222.4:c.490C>T MANE Select NP_057306.2:p.Arg164Trp
ENST00000330503.12:c.490C>T MANE Select ENSP00000330349.8:p.Arg164Trp
NM_001321732.1:c.112C>T NP_001308661.1:p.Arg38Trp
NM_001321732.2:c.112C>T NP_001308661.1:p.Arg38Trp
NM_001321830.1:c.112C>T NP_001308759.1:p.Arg38Trp
NM_001321830.2:c.112C>T NP_001308759.1:p.Arg38Trp
NM_016222.2:c.490C>T NP_057306.2:p.Arg164Trp
NM_016222.3:c.490C>T NP_057306.2:p.Arg164Trp
ENST00000330503.11:c.544C>T ENSP00000330349.7:p.Arg182Trp
ENST00000503078.5:n.783C>T
ENST00000504781.5:c.229C>T ENSP00000425739.1:p.Arg77Trp
ENST00000505081.5:n.731C>T
ENST00000506965.5:n.439+163C>T
ENST00000507955.5:c.490C>T ENSP00000422753.1:p.Arg164Trp
ENST00000507955.6:c.490C>T ENSP00000422753.2:p.Arg164Trp
ENST00000509576.5:c.490C>T ENSP00000426330.1:p.Arg164Trp
ENST00000512431.5:n.609C>T
ENST00000515562.1:n.759C>T
ENST00000629036.2:c.490C>T ENSP00000486367.1:p.Arg164Trp
ENST00000650742.1:n.451+163C>T
ENST00000652618.1:n.487+163C>T
ENST00000652623.1:n.562C>T
XM_006714870.1:c.112C>T XP_006714933.1:p.Arg38Trp
XM_024446109.1:c.133C>T XP_024301877.1:p.Arg45Trp