Canonical Allele Identifier: CA2891710
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs199812132
gnomAD v2: 4-39207280-C-G
gnomAD v3: 4-39205660-C-G
gnomAD v4: 4-39205660-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205660C>G , CM000666.2:g.39205660C>G GRCh38
NC_000004.11:g.39207280C>G , CM000666.1:g.39207280C>G GRCh37
NC_000004.10:g.38883675C>G NCBI36
NG_031813.1:g.28257C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.814C>G MANE Select ENSP00000382717.3:p.Arg272Gly
ENST00000399820.7:c.814C>G ENSP00000382717.3:p.Arg272Gly
ENST00000503697.5:c.*282C>G ENSP00000423706.1:n.*282C>G
ENST00000506503.1:c.814C>G ENSP00000423491.1:p.Arg272Gly
ENST00000506869.5:c.*395C>G ENSP00000424319.1:n.*395C>G
ENST00000511729.5:n.41-22898C>G
ENST00000512448.1:n.408C>G
NM_025132.3:c.814C>G NP_079408.3:p.Arg272Gly
XM_011513724.1:c.814C>G XP_011512026.1:p.Arg272Gly
XM_011513725.1:c.748C>G XP_011512027.1:p.Arg250Gly
XM_011513726.1:c.334C>G XP_011512028.1:p.Arg112Gly
XM_011513727.1:c.334C>G XP_011512029.1:p.Arg112Gly
XM_011513728.1:c.334C>G XP_011512030.1:p.Arg112Gly
XM_011513729.1:c.814C>G XP_011512031.1:p.Arg272Gly
XR_925155.1:n.878C>G
NM_001317924.1:c.334C>G NP_001304853.1:p.Arg112Gly
XM_011513725.2:c.748C>G XP_011512027.1:p.Arg250Gly
XM_011513726.3:c.334C>G XP_011512028.1:p.Arg112Gly
XM_017008501.1:c.334C>G XP_016863990.1:p.Arg112Gly
XR_001741306.1:n.878C>G
XR_001741307.1:n.878C>G
XR_001741308.1:n.878C>G
XR_001741309.1:n.878C>G
XR_001741310.1:n.878C>G
XR_001741311.2:n.727C>G
XR_001741312.1:n.878C>G
NM_025132.4:c.814C>G MANE Select NP_079408.3:p.Arg272Gly
NM_001317924.2:c.334C>G NP_001304853.1:p.Arg112Gly