Canonical Allele Identifier: CA2892122
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs753011624
gnomAD v3: 4-39244506-C-G
gnomAD v4: 4-39244506-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39244506C>G , CM000666.2:g.39244506C>G GRCh38
NC_000004.11:g.39246126C>G , CM000666.1:g.39246126C>G GRCh37
NC_000004.10:g.38922521C>G NCBI36
NG_031813.1:g.67103C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.2599C>G MANE Select ENSP00000382717.3:p.Leu867Val
ENST00000399820.7:c.2599C>G ENSP00000382717.3:p.Leu867Val
ENST00000506869.5:c.*2180C>G ENSP00000424319.1:n.*2180C>G
ENST00000512095.5:n.1597C>G
NM_025132.3:c.2599C>G NP_079408.3:p.Leu867Val
XM_011513724.1:c.2611C>G XP_011512026.1:p.Leu871Val
XM_011513725.1:c.2545C>G XP_011512027.1:p.Leu849Val
XM_011513726.1:c.2131C>G XP_011512028.1:p.Leu711Val
XM_011513727.1:c.2131C>G XP_011512029.1:p.Leu711Val
XM_011513728.1:c.2119C>G XP_011512030.1:p.Leu707Val
XM_011513729.1:c.2611C>G XP_011512031.1:p.Leu871Val
XR_925155.1:n.2675C>G
NM_001317924.1:c.2119C>G NP_001304853.1:p.Leu707Val
XM_011513725.2:c.2545C>G XP_011512027.1:p.Leu849Val
XM_011513726.3:c.2131C>G XP_011512028.1:p.Leu711Val
XM_017008501.1:c.2119C>G XP_016863990.1:p.Leu707Val
XR_001741306.1:n.2675C>G
XR_001741307.1:n.2663C>G
XR_001741308.1:n.2675C>G
XR_001741309.1:n.2663C>G
XR_001741310.1:n.2663C>G
XR_001741311.2:n.2512C>G
NM_025132.4:c.2599C>G MANE Select NP_079408.3:p.Leu867Val
NM_001317924.2:c.2119C>G NP_001304853.1:p.Leu707Val