Canonical Allele Identifier: CA1603617761
Community Standard Title: NM_016222.4(DDX41):c.740A= (p.Glu247=)
Gene: DDX41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177514974T= , CM000667.2:g.177514974T= GRCh38
NC_000005.9:g.176941975T= , CM000667.1:g.176941975T= GRCh37
NC_000005.8:g.176874581T= NCBI36
NG_046846.1:g.7353A=
NG_046846.2:g.6988A=

Transcript Alleles

HGVS Amino-acid Change
NM_016222.4:c.740A= MANE Select NP_057306.2:p.Glu247=
ENST00000330503.12:c.740A= MANE Select ENSP00000330349.8:p.Glu247=
NM_001321732.1:c.362A= NP_001308661.1:p.Glu121=
NM_001321732.2:c.362A= NP_001308661.1:p.Glu121=
NM_001321830.1:c.362A= NP_001308759.1:p.Glu121=
NM_001321830.2:c.362A= NP_001308759.1:p.Glu121=
NM_016222.2:c.740A= NP_057306.2:p.Glu247=
NM_016222.3:c.740A= NP_057306.2:p.Glu247=
ENST00000330503.11:c.794A= ENSP00000330349.7:p.Glu265=
ENST00000503078.5:n.1033A=
ENST00000504781.5:c.582A= ENSP00000425739.1:n.582A=
ENST00000505081.5:n.1407A=
ENST00000507900.5:n.244A=
ENST00000507955.5:c.740A= ENSP00000422753.1:p.Glu247=
ENST00000507955.6:c.740A= ENSP00000422753.2:p.Glu247=
ENST00000508279.5:c.216A=
ENST00000511040.5:n.220A=
ENST00000512431.5:n.859A=
ENST00000513562.1:n.66A=
ENST00000650742.1:n.723A=
ENST00000652618.1:n.737A=
ENST00000652623.1:n.812A=
XM_006714870.1:c.362A= XP_006714933.1:p.Glu121=
XM_024446109.1:c.383A= XP_024301877.1:p.Glu128=