Canonical Allele Identifier: CA356633740
Gene: WDR19 HGNC NCBI

Linked Data

gnomAD v4: 4-39205164-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205164T>C , CM000666.2:g.39205164T>C GRCh38
NC_000004.11:g.39206784T>C , CM000666.1:g.39206784T>C GRCh37
NC_000004.10:g.38883179T>C NCBI36
NG_031813.1:g.27761T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.614T>C MANE Select ENSP00000382717.3:p.Val205Ala
ENST00000399820.7:c.614T>C ENSP00000382717.3:p.Val205Ala
ENST00000503697.5:c.*82T>C ENSP00000423706.1:n.*82T>C
ENST00000505055.5:c.*195T>C ENSP00000425949.1:n.*195T>C
ENST00000506503.1:c.614T>C ENSP00000423491.1:p.Val205Ala
ENST00000506869.5:c.*195T>C ENSP00000424319.1:n.*195T>C
ENST00000511729.5:n.40+22601T>C
ENST00000512448.1:n.208T>C
NM_025132.3:c.614T>C NP_079408.3:p.Val205Ala
XM_011513724.1:c.614T>C XP_011512026.1:p.Val205Ala
XM_011513725.1:c.548T>C XP_011512027.1:p.Val183Ala
XM_011513726.1:c.134T>C XP_011512028.1:p.Val45Ala
XM_011513727.1:c.134T>C XP_011512029.1:p.Val45Ala
XM_011513728.1:c.134T>C XP_011512030.1:p.Val45Ala
XM_011513729.1:c.614T>C XP_011512031.1:p.Val205Ala
XR_925155.1:n.678T>C
NM_001317924.1:c.134T>C NP_001304853.1:p.Val45Ala
XM_011513725.2:c.548T>C XP_011512027.1:p.Val183Ala
XM_011513726.3:c.134T>C XP_011512028.1:p.Val45Ala
XM_017008501.1:c.134T>C XP_016863990.1:p.Val45Ala
XR_001741306.1:n.678T>C
XR_001741307.1:n.678T>C
XR_001741308.1:n.678T>C
XR_001741309.1:n.678T>C
XR_001741310.1:n.678T>C
XR_001741311.2:n.527T>C
XR_001741312.1:n.678T>C
NM_025132.4:c.614T>C MANE Select NP_079408.3:p.Val205Ala
NM_001317924.2:c.134T>C NP_001304853.1:p.Val45Ala