Canonical Allele Identifier: CA95702874
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs752739796
gnomAD v2: 4-39274652-T-G
gnomAD v3: 4-39273032-T-G
gnomAD v4: 4-39273032-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39273032T>G , CM000666.2:g.39273032T>G GRCh38
NC_000004.11:g.39274652T>G , CM000666.1:g.39274652T>G GRCh37
NC_000004.10:g.38951047T>G NCBI36
NG_031813.1:g.95629T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000399820.8:c.3536T>G MANE Select ENSP00000382717.3:p.Val1179Gly
ENST00000399820.7:c.3536T>G ENSP00000382717.3:p.Val1179Gly
ENST00000506869.5:c.*3117T>G ENSP00000424319.1:n.*3117T>G
ENST00000512095.5:n.2534T>G
ENST00000512534.5:n.101T>G
NM_025132.3:c.3536T>G NP_079408.3:p.Val1179Gly
XM_011513724.1:c.3548T>G XP_011512026.1:p.Val1183Gly
XM_011513725.1:c.3482T>G XP_011512027.1:p.Val1161Gly
XM_011513726.1:c.3068T>G XP_011512028.1:p.Val1023Gly
XM_011513727.1:c.3068T>G XP_011512029.1:p.Val1023Gly
XM_011513728.1:c.3056T>G XP_011512030.1:p.Val1019Gly
XR_925155.1:n.3612T>G
NM_001317924.1:c.3056T>G NP_001304853.1:p.Val1019Gly
XM_011513725.2:c.3482T>G XP_011512027.1:p.Val1161Gly
XM_011513726.3:c.3068T>G XP_011512028.1:p.Val1023Gly
XM_017008501.1:c.3056T>G XP_016863990.1:p.Val1019Gly
XR_001741306.1:n.3612T>G
XR_001741307.1:n.3600T>G
XR_001741308.1:n.3612T>G
XR_001741309.1:n.3600T>G
XR_001741310.1:n.3600T>G
XR_001741311.2:n.3449T>G
NM_025132.4:c.3536T>G MANE Select NP_079408.3:p.Val1179Gly
NM_001317924.2:c.3056T>G NP_001304853.1:p.Val1019Gly