Canonical Allele Identifier: CA2891688
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs776687469
gnomAD v2: 4-39207194-G-C
gnomAD v4: 4-39205574-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205574G>C , CM000666.2:g.39205574G>C GRCh38
NC_000004.11:g.39207194G>C , CM000666.1:g.39207194G>C GRCh37
NC_000004.10:g.38883589G>C NCBI36
NG_031813.1:g.28171G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.728G>C MANE Select ENSP00000382717.3:p.Gly243Ala
ENST00000399820.7:c.728G>C ENSP00000382717.3:p.Gly243Ala
ENST00000503697.5:c.*196G>C ENSP00000423706.1:n.*196G>C
ENST00000506503.1:c.728G>C ENSP00000423491.1:p.Gly243Ala
ENST00000506869.5:c.*309G>C ENSP00000424319.1:n.*309G>C
ENST00000511729.5:n.41-22984G>C
ENST00000512448.1:n.322G>C
NM_025132.3:c.728G>C NP_079408.3:p.Gly243Ala
XM_011513724.1:c.728G>C XP_011512026.1:p.Gly243Ala
XM_011513725.1:c.662G>C XP_011512027.1:p.Gly221Ala
XM_011513726.1:c.248G>C XP_011512028.1:p.Gly83Ala
XM_011513727.1:c.248G>C XP_011512029.1:p.Gly83Ala
XM_011513728.1:c.248G>C XP_011512030.1:p.Gly83Ala
XM_011513729.1:c.728G>C XP_011512031.1:p.Gly243Ala
XR_925155.1:n.792G>C
NM_001317924.1:c.248G>C NP_001304853.1:p.Gly83Ala
XM_011513725.2:c.662G>C XP_011512027.1:p.Gly221Ala
XM_011513726.3:c.248G>C XP_011512028.1:p.Gly83Ala
XM_017008501.1:c.248G>C XP_016863990.1:p.Gly83Ala
XR_001741306.1:n.792G>C
XR_001741307.1:n.792G>C
XR_001741308.1:n.792G>C
XR_001741309.1:n.792G>C
XR_001741310.1:n.792G>C
XR_001741311.2:n.641G>C
XR_001741312.1:n.792G>C
NM_025132.4:c.728G>C MANE Select NP_079408.3:p.Gly243Ala
NM_001317924.2:c.248G>C NP_001304853.1:p.Gly83Ala