Canonical Allele Identifier: CA95686235
Gene: WDR19 HGNC NCBI

Linked Data

ClinVar Variation Id: 2938530
ClinVar RCV Id: RCV003799304
dbSNP Id: rs549951611
gnomAD v4: 4-39205544-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205544G>T , CM000666.2:g.39205544G>T GRCh38
NC_000004.11:g.39207164G>T , CM000666.1:g.39207164G>T GRCh37
NC_000004.10:g.38883559G>T NCBI36
NG_031813.1:g.28141G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000399820.8:c.717-19G>T MANE Select ENSP00000382717.3:n.717-19G>T
ENST00000399820.7:c.717-19G>T ENSP00000382717.3:n.717-19G>T
ENST00000503697.5:c.*185-19G>T ENSP00000423706.1:n.*185-19G>T
ENST00000505055.5:c.*298-19G>T ENSP00000425949.1:n.*298-19G>T
ENST00000506503.1:c.717-19G>T ENSP00000423491.1:n.717-19G>T
ENST00000506869.5:c.*298-19G>T ENSP00000424319.1:n.*298-19G>T
ENST00000511729.5:n.40+22981G>T
ENST00000512448.1:n.311-19G>T
NM_025132.3:c.717-19G>T NP_079408.3:n.717-19G>T
XM_011513724.1:c.717-19G>T XP_011512026.1:n.717-19G>T
XM_011513725.1:c.651-19G>T XP_011512027.1:n.651-19G>T
XM_011513726.1:c.237-19G>T XP_011512028.1:n.237-19G>T
XM_011513727.1:c.237-19G>T XP_011512029.1:n.237-19G>T
XM_011513728.1:c.237-19G>T XP_011512030.1:n.237-19G>T
XM_011513729.1:c.717-19G>T XP_011512031.1:n.717-19G>T
XR_925155.1:n.781-19G>T
NM_001317924.1:c.237-19G>T NP_001304853.1:n.237-19G>T
XM_011513725.2:c.651-19G>T XP_011512027.1:n.651-19G>T
XM_011513726.3:c.237-19G>T XP_011512028.1:n.237-19G>T
XM_017008501.1:c.237-19G>T XP_016863990.1:n.237-19G>T
XR_001741306.1:n.781-19G>T
XR_001741307.1:n.781-19G>T
XR_001741308.1:n.781-19G>T
XR_001741309.1:n.781-19G>T
XR_001741310.1:n.781-19G>T
XR_001741311.2:n.630-19G>T
XR_001741312.1:n.781-19G>T
NM_025132.4:c.717-19G>T MANE Select NP_079408.3:n.717-19G>T
NM_001317924.2:c.237-19G>T NP_001304853.1:n.237-19G>T