Canonical Allele Identifier: CA95703902
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs565169470
gnomAD v3: 4-39275079-C-T
gnomAD v4: 4-39275079-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39275079C>T , CM000666.2:g.39275079C>T GRCh38
NC_000004.11:g.39276699C>T , CM000666.1:g.39276699C>T GRCh37
NC_000004.10:g.38953094C>T NCBI36
NG_031813.1:g.97676C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.3716+121C>T MANE Select ENSP00000382717.3:n.3716+121C>T
ENST00000399820.7:c.3716+121C>T ENSP00000382717.3:n.3716+121C>T
ENST00000506869.5:c.*3297+121C>T ENSP00000424319.1:n.*3297+121C>T
ENST00000512095.5:n.2835C>T
ENST00000512534.5:n.2027+121C>T
NM_025132.3:c.3716+121C>T NP_079408.3:n.3716+121C>T
XM_011513724.1:c.3728+121C>T XP_011512026.1:n.3728+121C>T
XM_011513725.1:c.3662+121C>T XP_011512027.1:n.3662+121C>T
XM_011513726.1:c.3248+121C>T XP_011512028.1:n.3248+121C>T
XM_011513727.1:c.3248+121C>T XP_011512029.1:n.3248+121C>T
XM_011513728.1:c.3236+121C>T XP_011512030.1:n.3236+121C>T
XR_925155.1:n.5426+121C>T
NM_001317924.1:c.3236+121C>T NP_001304853.1:n.3236+121C>T
XM_011513725.2:c.3662+121C>T XP_011512027.1:n.3662+121C>T
XM_011513726.3:c.3248+121C>T XP_011512028.1:n.3248+121C>T
XM_017008501.1:c.3236+121C>T XP_016863990.1:n.3236+121C>T
XR_001741306.1:n.3792+121C>T
XR_001741307.1:n.3780+121C>T
XR_001741308.1:n.5426+121C>T
XR_001741309.1:n.5414+121C>T
XR_001741310.1:n.5414+121C>T
XR_001741311.2:n.5263+121C>T
NM_025132.4:c.3716+121C>T MANE Select NP_079408.3:n.3716+121C>T
NM_001317924.2:c.3236+121C>T NP_001304853.1:n.3236+121C>T