Canonical Allele Identifier: CA356632341
Community Standard Title: NM_025132.4(WDR19):c.440G>A (p.Trp147Ter)
Gene: WDR19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39199511G>A , CM000666.2:g.39199511G>A GRCh38
NC_000004.11:g.39201131G>A , CM000666.1:g.39201131G>A GRCh37
NC_000004.10:g.38877526G>A NCBI36
NG_031813.1:g.22108G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025132.4:c.440G>A MANE Select NP_079408.3:p.Trp147Ter
ENST00000399820.8:c.440G>A MANE Select ENSP00000382717.3:p.Trp147Ter
NM_001317924.1:c.-41G>A NP_001304853.1:n.-41G>A
NM_001317924.2:c.-41G>A NP_001304853.1:n.-41G>A
NM_025132.3:c.440G>A NP_079408.3:p.Trp147Ter
ENST00000399820.7:c.440G>A ENSP00000382717.3:p.Trp147Ter
ENST00000503697.5:c.291-4131G>A ENSP00000423706.1:n.291-4131G>A
ENST00000505055.5:c.*21G>A ENSP00000425949.1:n.*21G>A
ENST00000506503.1:c.440G>A ENSP00000423491.1:p.Trp147Ter
ENST00000506869.5:c.*21G>A ENSP00000424319.1:n.*21G>A
ENST00000509560.5:c.263G>A ENSP00000426918.1:p.Trp88Ter
ENST00000511729.5:n.40+16948G>A
ENST00000512112.5:c.-41G>A ENSP00000421888.1:n.-41G>A
ENST00000512448.1:n.34G>A
XM_011513724.1:c.440G>A XP_011512026.1:p.Trp147Ter
XM_011513725.1:c.374G>A XP_011512027.1:p.Trp125Ter
XM_011513725.2:c.374G>A XP_011512027.1:p.Trp125Ter
XM_011513726.1:c.-41G>A XP_011512028.1:n.-41G>A
XM_011513726.3:c.-41G>A XP_011512028.1:n.-41G>A
XM_011513727.1:c.-41G>A XP_011512029.1:n.-41G>A
XM_011513728.1:c.-41G>A XP_011512030.1:n.-41G>A
XM_011513729.1:c.440G>A XP_011512031.1:p.Trp147Ter
XM_017008501.1:c.-41G>A XP_016863990.1:n.-41G>A
XR_001741306.1:n.504G>A
XR_001741307.1:n.504G>A
XR_001741308.1:n.504G>A
XR_001741309.1:n.504G>A
XR_001741310.1:n.504G>A
XR_001741311.2:n.353G>A
XR_001741312.1:n.504G>A
XR_925155.1:n.504G>A