Canonical Allele Identifier: CA356631899
Community Standard Title: NM_025132.4(WDR19):c.1483G>T (p.Gly495Cys)
Gene: WDR19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39224887G>T , CM000666.2:g.39224887G>T GRCh38
NC_000004.11:g.39226507G>T , CM000666.1:g.39226507G>T GRCh37
NC_000004.10:g.38902902G>T NCBI36
NG_031813.1:g.47484G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025132.4:c.1483G>T MANE Select NP_079408.3:p.Gly495Cys
ENST00000399820.8:c.1483G>T MANE Select ENSP00000382717.3:p.Gly495Cys
NM_001317924.1:c.1003G>T NP_001304853.1:p.Gly335Cys
NM_001317924.2:c.1003G>T NP_001304853.1:p.Gly335Cys
NM_025132.3:c.1483G>T NP_079408.3:p.Gly495Cys
ENST00000399820.7:c.1483G>T ENSP00000382717.3:p.Gly495Cys
ENST00000506869.5:c.*1064G>T ENSP00000424319.1:n.*1064G>T
ENST00000511729.5:n.41-3671G>T
ENST00000512095.5:n.481G>T
XM_011513724.1:c.1483G>T XP_011512026.1:p.Gly495Cys
XM_011513725.1:c.1417G>T XP_011512027.1:p.Gly473Cys
XM_011513725.2:c.1417G>T XP_011512027.1:p.Gly473Cys
XM_011513726.1:c.1003G>T XP_011512028.1:p.Gly335Cys
XM_011513726.3:c.1003G>T XP_011512028.1:p.Gly335Cys
XM_011513727.1:c.1003G>T XP_011512029.1:p.Gly335Cys
XM_011513728.1:c.1003G>T XP_011512030.1:p.Gly335Cys
XM_011513729.1:c.1483G>T XP_011512031.1:p.Gly495Cys
XM_017008501.1:c.1003G>T XP_016863990.1:p.Gly335Cys
XR_001741306.1:n.1547G>T
XR_001741307.1:n.1547G>T
XR_001741308.1:n.1547G>T
XR_001741309.1:n.1547G>T
XR_001741310.1:n.1547G>T
XR_001741311.2:n.1396G>T
XR_001741312.1:n.1547G>T
XR_925155.1:n.1547G>T