Canonical Allele Identifier: CA2892249
Community Standard Title: NM_025132.4(WDR19):c.3042C>T (p.Ala1014=)
Gene: WDR19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39255888C>T , CM000666.2:g.39255888C>T GRCh38
NC_000004.11:g.39257508C>T , CM000666.1:g.39257508C>T GRCh37
NC_000004.10:g.38933903C>T NCBI36
NG_031813.1:g.78485C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025132.4:c.3042C>T MANE Select NP_079408.3:p.Ala1014=
ENST00000399820.8:c.3042C>T MANE Select ENSP00000382717.3:p.Ala1014=
NM_001317924.1:c.2562C>T NP_001304853.1:p.Ala854=
NM_001317924.2:c.2562C>T NP_001304853.1:p.Ala854=
NM_025132.3:c.3042C>T NP_079408.3:p.Ala1014=
ENST00000399820.7:c.3042C>T ENSP00000382717.3:p.Ala1014=
ENST00000506869.5:c.*2623C>T ENSP00000424319.1:n.*2623C>T
ENST00000512095.5:n.2040C>T
XM_011513724.1:c.3054C>T XP_011512026.1:p.Ala1018=
XM_011513725.1:c.2988C>T XP_011512027.1:p.Ala996=
XM_011513725.2:c.2988C>T XP_011512027.1:p.Ala996=
XM_011513726.1:c.2574C>T XP_011512028.1:p.Ala858=
XM_011513726.3:c.2574C>T XP_011512028.1:p.Ala858=
XM_011513727.1:c.2574C>T XP_011512029.1:p.Ala858=
XM_011513728.1:c.2562C>T XP_011512030.1:p.Ala854=
XM_017008501.1:c.2562C>T XP_016863990.1:p.Ala854=
XR_001741306.1:n.3118C>T
XR_001741307.1:n.3106C>T
XR_001741308.1:n.3118C>T
XR_001741309.1:n.3106C>T
XR_001741310.1:n.3106C>T
XR_001741311.2:n.2955C>T
XR_925155.1:n.3118C>T