Canonical Allele Identifier: CA356647093
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs1225086394
gnomAD v2: 4-39274606-G-A
gnomAD v4: 4-39272986-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39272986G>A , CM000666.2:g.39272986G>A GRCh38
NC_000004.11:g.39274606G>A , CM000666.1:g.39274606G>A GRCh37
NC_000004.10:g.38951001G>A NCBI36
NG_031813.1:g.95583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.3490G>A MANE Select ENSP00000382717.3:p.Val1164Ile
ENST00000399820.7:c.3490G>A ENSP00000382717.3:p.Val1164Ile
ENST00000506869.5:c.*3071G>A ENSP00000424319.1:n.*3071G>A
ENST00000512095.5:n.2488G>A
ENST00000512534.5:n.55G>A
NM_025132.3:c.3490G>A NP_079408.3:p.Val1164Ile
XM_011513724.1:c.3502G>A XP_011512026.1:p.Val1168Ile
XM_011513725.1:c.3436G>A XP_011512027.1:p.Val1146Ile
XM_011513726.1:c.3022G>A XP_011512028.1:p.Val1008Ile
XM_011513727.1:c.3022G>A XP_011512029.1:p.Val1008Ile
XM_011513728.1:c.3010G>A XP_011512030.1:p.Val1004Ile
XR_925155.1:n.3566G>A
NM_001317924.1:c.3010G>A NP_001304853.1:p.Val1004Ile
XM_011513725.2:c.3436G>A XP_011512027.1:p.Val1146Ile
XM_011513726.3:c.3022G>A XP_011512028.1:p.Val1008Ile
XM_017008501.1:c.3010G>A XP_016863990.1:p.Val1004Ile
XR_001741306.1:n.3566G>A
XR_001741307.1:n.3554G>A
XR_001741308.1:n.3566G>A
XR_001741309.1:n.3554G>A
XR_001741310.1:n.3554G>A
XR_001741311.2:n.3403G>A
NM_025132.4:c.3490G>A MANE Select NP_079408.3:p.Val1164Ile
NM_001317924.2:c.3010G>A NP_001304853.1:p.Val1004Ile