Canonical Allele Identifier: CA10602914
Gene: WDR19 HGNC NCBI

Linked Data

ClinVar Variation Id: 280765
dbSNP Id: rs886041912
gnomAD v2: 4-39236496-G-A
gnomAD v3: 4-39234876-G-A
gnomAD v4: 4-39234876-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39234876G>A , CM000666.2:g.39234876G>A GRCh38
NC_000004.11:g.39236496G>A , CM000666.1:g.39236496G>A GRCh37
NC_000004.10:g.38912891G>A NCBI36
NG_031813.1:g.57473G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.2363+1G>A MANE Select ENSP00000382717.3:n.2363+1G>A
ENST00000399820.7:c.2363+1G>A ENSP00000382717.3:n.2363+1G>A
ENST00000502718.1:n.109+1G>A
ENST00000506869.5:c.*1944+1G>A ENSP00000424319.1:n.*1944+1G>A
ENST00000507228.1:c.513+1G>A
ENST00000512095.5:n.1361+1G>A
NM_025132.3:c.2363+1G>A NP_079408.3:n.2363+1G>A
XM_011513724.1:c.2375+1G>A XP_011512026.1:n.2375+1G>A
XM_011513725.1:c.2309+1G>A XP_011512027.1:n.2309+1G>A
XM_011513726.1:c.1895+1G>A XP_011512028.1:n.1895+1G>A
XM_011513727.1:c.1895+1G>A XP_011512029.1:n.1895+1G>A
XM_011513728.1:c.1883+1G>A XP_011512030.1:n.1883+1G>A
XM_011513729.1:c.2375+1G>A XP_011512031.1:n.2375+1G>A
XR_925155.1:n.2439+1G>A
NM_001317924.1:c.1883+1G>A NP_001304853.1:n.1883+1G>A
XM_011513725.2:c.2309+1G>A XP_011512027.1:n.2309+1G>A
XM_011513726.3:c.1895+1G>A XP_011512028.1:n.1895+1G>A
XM_017008501.1:c.1883+1G>A XP_016863990.1:n.1883+1G>A
XR_001741306.1:n.2439+1G>A
XR_001741307.1:n.2427+1G>A
XR_001741308.1:n.2439+1G>A
XR_001741309.1:n.2427+1G>A
XR_001741310.1:n.2427+1G>A
XR_001741311.2:n.2276+1G>A
XR_001741312.1:n.2463+1G>A
NM_025132.4:c.2363+1G>A MANE Select NP_079408.3:n.2363+1G>A
NM_001317924.2:c.1883+1G>A NP_001304853.1:n.1883+1G>A