Canonical Allele Identifier: CA356634561
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs1209985738
gnomAD v2: 4-39207343-T-C
gnomAD v4: 4-39205723-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205723T>C , CM000666.2:g.39205723T>C GRCh38
NC_000004.11:g.39207343T>C , CM000666.1:g.39207343T>C GRCh37
NC_000004.10:g.38883738T>C NCBI36
NG_031813.1:g.28320T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.877T>C MANE Select ENSP00000382717.3:p.Cys293Arg
ENST00000399820.7:c.877T>C ENSP00000382717.3:p.Cys293Arg
ENST00000503697.5:c.*345T>C ENSP00000423706.1:n.*345T>C
ENST00000506503.1:c.877T>C ENSP00000423491.1:p.Cys293Arg
ENST00000506869.5:c.*458T>C ENSP00000424319.1:n.*458T>C
ENST00000511729.5:n.41-22835T>C
ENST00000512448.1:n.471T>C
NM_025132.3:c.877T>C NP_079408.3:p.Cys293Arg
XM_011513724.1:c.877T>C XP_011512026.1:p.Cys293Arg
XM_011513725.1:c.811T>C XP_011512027.1:p.Cys271Arg
XM_011513726.1:c.397T>C XP_011512028.1:p.Cys133Arg
XM_011513727.1:c.397T>C XP_011512029.1:p.Cys133Arg
XM_011513728.1:c.397T>C XP_011512030.1:p.Cys133Arg
XM_011513729.1:c.877T>C XP_011512031.1:p.Cys293Arg
XR_925155.1:n.941T>C
NM_001317924.1:c.397T>C NP_001304853.1:p.Cys133Arg
XM_011513725.2:c.811T>C XP_011512027.1:p.Cys271Arg
XM_011513726.3:c.397T>C XP_011512028.1:p.Cys133Arg
XM_017008501.1:c.397T>C XP_016863990.1:p.Cys133Arg
XR_001741306.1:n.941T>C
XR_001741307.1:n.941T>C
XR_001741308.1:n.941T>C
XR_001741309.1:n.941T>C
XR_001741310.1:n.941T>C
XR_001741311.2:n.790T>C
XR_001741312.1:n.941T>C
NM_025132.4:c.877T>C MANE Select NP_079408.3:p.Cys293Arg
NM_001317924.2:c.397T>C NP_001304853.1:p.Cys133Arg