Canonical Allele Identifier: CA95686147
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs368501016
gnomAD v2: 4-39207001-A-C
gnomAD v3: 4-39205381-A-C
gnomAD v4: 4-39205381-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205381A>C , CM000666.2:g.39205381A>C GRCh38
NC_000004.11:g.39207001A>C , CM000666.1:g.39207001A>C GRCh37
NC_000004.10:g.38883396A>C NCBI36
NG_031813.1:g.27978A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.716+115A>C MANE Select ENSP00000382717.3:n.716+115A>C
ENST00000399820.7:c.716+115A>C ENSP00000382717.3:n.716+115A>C
ENST00000503697.5:c.*184+115A>C ENSP00000423706.1:n.*184+115A>C
ENST00000505055.5:c.*297+115A>C ENSP00000425949.1:n.*297+115A>C
ENST00000506503.1:c.716+115A>C ENSP00000423491.1:n.716+115A>C
ENST00000506869.5:c.*297+115A>C ENSP00000424319.1:n.*297+115A>C
ENST00000511729.5:n.40+22818A>C
ENST00000512448.1:n.310+115A>C
NM_025132.3:c.716+115A>C NP_079408.3:n.716+115A>C
XM_011513724.1:c.716+115A>C XP_011512026.1:n.716+115A>C
XM_011513725.1:c.650+115A>C XP_011512027.1:n.650+115A>C
XM_011513726.1:c.236+115A>C XP_011512028.1:n.236+115A>C
XM_011513727.1:c.236+115A>C XP_011512029.1:n.236+115A>C
XM_011513728.1:c.236+115A>C XP_011512030.1:n.236+115A>C
XM_011513729.1:c.716+115A>C XP_011512031.1:n.716+115A>C
XR_925155.1:n.780+115A>C
NM_001317924.1:c.236+115A>C NP_001304853.1:n.236+115A>C
XM_011513725.2:c.650+115A>C XP_011512027.1:n.650+115A>C
XM_011513726.3:c.236+115A>C XP_011512028.1:n.236+115A>C
XM_017008501.1:c.236+115A>C XP_016863990.1:n.236+115A>C
XR_001741306.1:n.780+115A>C
XR_001741307.1:n.780+115A>C
XR_001741308.1:n.780+115A>C
XR_001741309.1:n.780+115A>C
XR_001741310.1:n.780+115A>C
XR_001741311.2:n.629+115A>C
XR_001741312.1:n.780+115A>C
NM_025132.4:c.716+115A>C MANE Select NP_079408.3:n.716+115A>C
NM_001317924.2:c.236+115A>C NP_001304853.1:n.236+115A>C