Canonical Allele Identifier: CA356634317
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs1190857734
gnomAD v2: 4-39207229-G-A
gnomAD v4: 4-39205609-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205609G>A , CM000666.2:g.39205609G>A GRCh38
NC_000004.11:g.39207229G>A , CM000666.1:g.39207229G>A GRCh37
NC_000004.10:g.38883624G>A NCBI36
NG_031813.1:g.28206G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.763G>A MANE Select ENSP00000382717.3:p.Val255Met
ENST00000399820.7:c.763G>A ENSP00000382717.3:p.Val255Met
ENST00000503697.5:c.*231G>A ENSP00000423706.1:n.*231G>A
ENST00000506503.1:c.763G>A ENSP00000423491.1:p.Val255Met
ENST00000506869.5:c.*344G>A ENSP00000424319.1:n.*344G>A
ENST00000511729.5:n.41-22949G>A
ENST00000512448.1:n.357G>A
NM_025132.3:c.763G>A NP_079408.3:p.Val255Met
XM_011513724.1:c.763G>A XP_011512026.1:p.Val255Met
XM_011513725.1:c.697G>A XP_011512027.1:p.Val233Met
XM_011513726.1:c.283G>A XP_011512028.1:p.Val95Met
XM_011513727.1:c.283G>A XP_011512029.1:p.Val95Met
XM_011513728.1:c.283G>A XP_011512030.1:p.Val95Met
XM_011513729.1:c.763G>A XP_011512031.1:p.Val255Met
XR_925155.1:n.827G>A
NM_001317924.1:c.283G>A NP_001304853.1:p.Val95Met
XM_011513725.2:c.697G>A XP_011512027.1:p.Val233Met
XM_011513726.3:c.283G>A XP_011512028.1:p.Val95Met
XM_017008501.1:c.283G>A XP_016863990.1:p.Val95Met
XR_001741306.1:n.827G>A
XR_001741307.1:n.827G>A
XR_001741308.1:n.827G>A
XR_001741309.1:n.827G>A
XR_001741310.1:n.827G>A
XR_001741311.2:n.676G>A
XR_001741312.1:n.827G>A
NM_025132.4:c.763G>A MANE Select NP_079408.3:p.Val255Met
NM_001317924.2:c.283G>A NP_001304853.1:p.Val95Met