Canonical Allele Identifier: CA356632041
Community Standard Title: NM_025132.4(WDR19):c.1534C>T (p.Arg512Ter)
Gene: WDR19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39224938C>T , CM000666.2:g.39224938C>T GRCh38
NC_000004.11:g.39226558C>T , CM000666.1:g.39226558C>T GRCh37
NC_000004.10:g.38902953C>T NCBI36
NG_031813.1:g.47535C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025132.4:c.1534C>T MANE Select NP_079408.3:p.Arg512Ter
ENST00000399820.8:c.1534C>T MANE Select ENSP00000382717.3:p.Arg512Ter
NM_001317924.1:c.1054C>T NP_001304853.1:p.Arg352Ter
NM_001317924.2:c.1054C>T NP_001304853.1:p.Arg352Ter
NM_025132.3:c.1534C>T NP_079408.3:p.Arg512Ter
ENST00000399820.7:c.1534C>T ENSP00000382717.3:p.Arg512Ter
ENST00000506869.5:c.*1115C>T ENSP00000424319.1:n.*1115C>T
ENST00000511729.5:n.41-3620C>T
ENST00000512095.5:n.532C>T
XM_011513724.1:c.1534C>T XP_011512026.1:p.Arg512Ter
XM_011513725.1:c.1468C>T XP_011512027.1:p.Arg490Ter
XM_011513725.2:c.1468C>T XP_011512027.1:p.Arg490Ter
XM_011513726.1:c.1054C>T XP_011512028.1:p.Arg352Ter
XM_011513726.3:c.1054C>T XP_011512028.1:p.Arg352Ter
XM_011513727.1:c.1054C>T XP_011512029.1:p.Arg352Ter
XM_011513728.1:c.1054C>T XP_011512030.1:p.Arg352Ter
XM_011513729.1:c.1534C>T XP_011512031.1:p.Arg512Ter
XM_017008501.1:c.1054C>T XP_016863990.1:p.Arg352Ter
XR_001741306.1:n.1598C>T
XR_001741307.1:n.1598C>T
XR_001741308.1:n.1598C>T
XR_001741309.1:n.1598C>T
XR_001741310.1:n.1598C>T
XR_001741311.2:n.1447C>T
XR_001741312.1:n.1598C>T
XR_925155.1:n.1598C>T