Canonical Allele Identifier: CA2892132
Gene: WDR19 HGNC NCBI

Linked Data

ClinVar Variation Id: 1565820
ClinVar RCV Id: RCV002218503
dbSNP Id: rs771913668
gnomAD v2: 4-39246188-G-A
gnomAD v3: 4-39244568-G-A
gnomAD v4: 4-39244568-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39244568G>A , CM000666.2:g.39244568G>A GRCh38
NC_000004.11:g.39246188G>A , CM000666.1:g.39246188G>A GRCh37
NC_000004.10:g.38922583G>A NCBI36
NG_031813.1:g.67165G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.2645+16G>A MANE Select ENSP00000382717.3:n.2645+16G>A
ENST00000399820.7:c.2645+16G>A ENSP00000382717.3:n.2645+16G>A
ENST00000506869.5:c.*2226+16G>A ENSP00000424319.1:n.*2226+16G>A
ENST00000512095.5:n.1643+16G>A
NM_025132.3:c.2645+16G>A NP_079408.3:n.2645+16G>A
XM_011513724.1:c.2657+16G>A XP_011512026.1:n.2657+16G>A
XM_011513725.1:c.2591+16G>A XP_011512027.1:n.2591+16G>A
XM_011513726.1:c.2177+16G>A XP_011512028.1:n.2177+16G>A
XM_011513727.1:c.2177+16G>A XP_011512029.1:n.2177+16G>A
XM_011513728.1:c.2165+16G>A XP_011512030.1:n.2165+16G>A
XM_011513729.1:c.2657+16G>A XP_011512031.1:n.2657+16G>A
XR_925155.1:n.2721+16G>A
NM_001317924.1:c.2165+16G>A NP_001304853.1:n.2165+16G>A
XM_011513725.2:c.2591+16G>A XP_011512027.1:n.2591+16G>A
XM_011513726.3:c.2177+16G>A XP_011512028.1:n.2177+16G>A
XM_017008501.1:c.2165+16G>A XP_016863990.1:n.2165+16G>A
XR_001741306.1:n.2721+16G>A
XR_001741307.1:n.2709+16G>A
XR_001741308.1:n.2721+16G>A
XR_001741309.1:n.2709+16G>A
XR_001741310.1:n.2709+16G>A
XR_001741311.2:n.2558+16G>A
NM_025132.4:c.2645+16G>A MANE Select NP_079408.3:n.2645+16G>A
NM_001317924.2:c.2165+16G>A NP_001304853.1:n.2165+16G>A