Canonical Allele Identifier: CA2891840
Community Standard Title: NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln)
Gene: WDR19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39218026G>A , CM000666.2:g.39218026G>A GRCh38
NC_000004.11:g.39219646G>A , CM000666.1:g.39219646G>A GRCh37
NC_000004.10:g.38896041G>A NCBI36
NG_031813.1:g.40623G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025132.4:c.1400G>A MANE Select NP_079408.3:p.Arg467Gln
ENST00000399820.8:c.1400G>A MANE Select ENSP00000382717.3:p.Arg467Gln
NM_001317924.1:c.920G>A NP_001304853.1:p.Arg307Gln
NM_001317924.2:c.920G>A NP_001304853.1:p.Arg307Gln
NM_025132.3:c.1400G>A NP_079408.3:p.Arg467Gln
ENST00000399820.7:c.1400G>A ENSP00000382717.3:p.Arg467Gln
ENST00000506503.1:c.1396G>A ENSP00000423491.1:p.Gly466Ser
ENST00000506869.5:c.*981G>A ENSP00000424319.1:n.*981G>A
ENST00000511729.5:n.41-10532G>A
ENST00000512095.5:n.398G>A
XM_011513724.1:c.1400G>A XP_011512026.1:p.Arg467Gln
XM_011513725.1:c.1334G>A XP_011512027.1:p.Arg445Gln
XM_011513725.2:c.1334G>A XP_011512027.1:p.Arg445Gln
XM_011513726.1:c.920G>A XP_011512028.1:p.Arg307Gln
XM_011513726.3:c.920G>A XP_011512028.1:p.Arg307Gln
XM_011513727.1:c.920G>A XP_011512029.1:p.Arg307Gln
XM_011513728.1:c.920G>A XP_011512030.1:p.Arg307Gln
XM_011513729.1:c.1400G>A XP_011512031.1:p.Arg467Gln
XM_017008501.1:c.920G>A XP_016863990.1:p.Arg307Gln
XR_001741306.1:n.1464G>A
XR_001741307.1:n.1464G>A
XR_001741308.1:n.1464G>A
XR_001741309.1:n.1464G>A
XR_001741310.1:n.1464G>A
XR_001741311.2:n.1313G>A
XR_001741312.1:n.1464G>A
XR_925155.1:n.1464G>A