Canonical Allele Identifier: CA356633725
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs1254605580
gnomAD v3: 4-39205160-G-T
gnomAD v4: 4-39205160-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205160G>T , CM000666.2:g.39205160G>T GRCh38
NC_000004.11:g.39206780G>T , CM000666.1:g.39206780G>T GRCh37
NC_000004.10:g.38883175G>T NCBI36
NG_031813.1:g.27757G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.610G>T MANE Select ENSP00000382717.3:p.Val204Leu
ENST00000399820.7:c.610G>T ENSP00000382717.3:p.Val204Leu
ENST00000503697.5:c.*78G>T ENSP00000423706.1:n.*78G>T
ENST00000505055.5:c.*191G>T ENSP00000425949.1:n.*191G>T
ENST00000506503.1:c.610G>T ENSP00000423491.1:p.Val204Leu
ENST00000506869.5:c.*191G>T ENSP00000424319.1:n.*191G>T
ENST00000511729.5:n.40+22597G>T
ENST00000512448.1:n.204G>T
NM_025132.3:c.610G>T NP_079408.3:p.Val204Leu
XM_011513724.1:c.610G>T XP_011512026.1:p.Val204Leu
XM_011513725.1:c.544G>T XP_011512027.1:p.Val182Leu
XM_011513726.1:c.130G>T XP_011512028.1:p.Val44Leu
XM_011513727.1:c.130G>T XP_011512029.1:p.Val44Leu
XM_011513728.1:c.130G>T XP_011512030.1:p.Val44Leu
XM_011513729.1:c.610G>T XP_011512031.1:p.Val204Leu
XR_925155.1:n.674G>T
NM_001317924.1:c.130G>T NP_001304853.1:p.Val44Leu
XM_011513725.2:c.544G>T XP_011512027.1:p.Val182Leu
XM_011513726.3:c.130G>T XP_011512028.1:p.Val44Leu
XM_017008501.1:c.130G>T XP_016863990.1:p.Val44Leu
XR_001741306.1:n.674G>T
XR_001741307.1:n.674G>T
XR_001741308.1:n.674G>T
XR_001741309.1:n.674G>T
XR_001741310.1:n.674G>T
XR_001741311.2:n.523G>T
XR_001741312.1:n.674G>T
NM_025132.4:c.610G>T MANE Select NP_079408.3:p.Val204Leu
NM_001317924.2:c.130G>T NP_001304853.1:p.Val44Leu