Canonical Allele Identifier: CA95678493
Community Standard Title: NM_025132.4(WDR19):c.275T>G (p.Leu92Ter)
Gene: WDR19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39189766T>G , CM000666.2:g.39189766T>G GRCh38
NC_000004.11:g.39191386T>G , CM000666.1:g.39191386T>G GRCh37
NC_000004.10:g.38867781T>G NCBI36
NG_031813.1:g.12363T>G

Transcript Alleles

HGVS Amino-acid Change
NM_025132.4:c.275T>G MANE Select NP_079408.3:p.Leu92Ter
ENST00000399820.8:c.275T>G MANE Select ENSP00000382717.3:p.Leu92Ter
NM_001317924.1:c.-90T>G NP_001304853.1:n.-90T>G
NM_001317924.2:c.-90T>G NP_001304853.1:n.-90T>G
NM_025132.3:c.275T>G NP_079408.3:p.Leu92Ter
ENST00000399820.7:c.275T>G ENSP00000382717.3:p.Leu92Ter
ENST00000502389.1:n.302T>G
ENST00000503697.5:c.275T>G ENSP00000423706.1:p.Leu92Ter
ENST00000505055.5:c.209T>G ENSP00000425949.1:p.Leu70Ter
ENST00000506503.1:c.275T>G ENSP00000423491.1:p.Leu92Ter
ENST00000506869.5:c.275T>G ENSP00000424319.1:p.Leu92Ter
ENST00000509560.5:c.98T>G ENSP00000426918.1:p.Leu33Ter
ENST00000511729.5:n.40+7203T>G
ENST00000512112.5:c.-90T>G ENSP00000421888.1:n.-90T>G
XM_011513724.1:c.275T>G XP_011512026.1:p.Leu92Ter
XM_011513725.1:c.209T>G XP_011512027.1:p.Leu70Ter
XM_011513725.2:c.209T>G XP_011512027.1:p.Leu70Ter
XM_011513726.1:c.-90T>G XP_011512028.1:n.-90T>G
XM_011513726.3:c.-90T>G XP_011512028.1:n.-90T>G
XM_011513727.1:c.-90T>G XP_011512029.1:n.-90T>G
XM_011513728.1:c.-90T>G XP_011512030.1:n.-90T>G
XM_011513729.1:c.275T>G XP_011512031.1:p.Leu92Ter
XM_017008501.1:c.-90T>G XP_016863990.1:n.-90T>G
XR_001741306.1:n.339T>G
XR_001741307.1:n.339T>G
XR_001741308.1:n.339T>G
XR_001741309.1:n.339T>G
XR_001741310.1:n.339T>G
XR_001741311.2:n.304T>G
XR_001741312.1:n.339T>G
XR_925155.1:n.339T>G