Canonical Allele Identifier: CA2892070
Community Standard Title: NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)
Gene: WDR19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39240299G>A , CM000666.2:g.39240299G>A GRCh38
NC_000004.11:g.39241919G>A , CM000666.1:g.39241919G>A GRCh37
NC_000004.10:g.38918314G>A NCBI36
NG_031813.1:g.62896G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025132.4:c.2386G>A MANE Select NP_079408.3:p.Ala796Thr
ENST00000399820.8:c.2386G>A MANE Select ENSP00000382717.3:p.Ala796Thr
NM_001317924.1:c.1906G>A NP_001304853.1:p.Ala636Thr
NM_001317924.2:c.1906G>A NP_001304853.1:p.Ala636Thr
NM_025132.3:c.2386G>A NP_079408.3:p.Ala796Thr
ENST00000399820.7:c.2386G>A ENSP00000382717.3:p.Ala796Thr
ENST00000506869.5:c.*1967G>A ENSP00000424319.1:n.*1967G>A
ENST00000507228.1:c.536G>A
ENST00000512095.5:n.1384G>A
XM_011513724.1:c.2398G>A XP_011512026.1:p.Ala800Thr
XM_011513725.1:c.2332G>A XP_011512027.1:p.Ala778Thr
XM_011513725.2:c.2332G>A XP_011512027.1:p.Ala778Thr
XM_011513726.1:c.1918G>A XP_011512028.1:p.Ala640Thr
XM_011513726.3:c.1918G>A XP_011512028.1:p.Ala640Thr
XM_011513727.1:c.1918G>A XP_011512029.1:p.Ala640Thr
XM_011513728.1:c.1906G>A XP_011512030.1:p.Ala636Thr
XM_011513729.1:c.2398G>A XP_011512031.1:p.Ala800Thr
XM_017008501.1:c.1906G>A XP_016863990.1:p.Ala636Thr
XR_001741306.1:n.2462G>A
XR_001741307.1:n.2450G>A
XR_001741308.1:n.2462G>A
XR_001741309.1:n.2450G>A
XR_001741310.1:n.2450G>A
XR_001741311.2:n.2299G>A
XR_001741312.1:n.2486G>A
XR_925155.1:n.2462G>A