Canonical Allele Identifier: CA356633814
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs1478781970
gnomAD v2: 4-39206804-T-C
gnomAD v4: 4-39205184-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205184T>C , CM000666.2:g.39205184T>C GRCh38
NC_000004.11:g.39206804T>C , CM000666.1:g.39206804T>C GRCh37
NC_000004.10:g.38883199T>C NCBI36
NG_031813.1:g.27781T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.634T>C MANE Select ENSP00000382717.3:p.Phe212Leu
ENST00000399820.7:c.634T>C ENSP00000382717.3:p.Phe212Leu
ENST00000503697.5:c.*102T>C ENSP00000423706.1:n.*102T>C
ENST00000505055.5:c.*215T>C ENSP00000425949.1:n.*215T>C
ENST00000506503.1:c.634T>C ENSP00000423491.1:p.Phe212Leu
ENST00000506869.5:c.*215T>C ENSP00000424319.1:n.*215T>C
ENST00000511729.5:n.40+22621T>C
ENST00000512448.1:n.228T>C
NM_025132.3:c.634T>C NP_079408.3:p.Phe212Leu
XM_011513724.1:c.634T>C XP_011512026.1:p.Phe212Leu
XM_011513725.1:c.568T>C XP_011512027.1:p.Phe190Leu
XM_011513726.1:c.154T>C XP_011512028.1:p.Phe52Leu
XM_011513727.1:c.154T>C XP_011512029.1:p.Phe52Leu
XM_011513728.1:c.154T>C XP_011512030.1:p.Phe52Leu
XM_011513729.1:c.634T>C XP_011512031.1:p.Phe212Leu
XR_925155.1:n.698T>C
NM_001317924.1:c.154T>C NP_001304853.1:p.Phe52Leu
XM_011513725.2:c.568T>C XP_011512027.1:p.Phe190Leu
XM_011513726.3:c.154T>C XP_011512028.1:p.Phe52Leu
XM_017008501.1:c.154T>C XP_016863990.1:p.Phe52Leu
XR_001741306.1:n.698T>C
XR_001741307.1:n.698T>C
XR_001741308.1:n.698T>C
XR_001741309.1:n.698T>C
XR_001741310.1:n.698T>C
XR_001741311.2:n.547T>C
XR_001741312.1:n.698T>C
NM_025132.4:c.634T>C MANE Select NP_079408.3:p.Phe212Leu
NM_001317924.2:c.154T>C NP_001304853.1:p.Phe52Leu