Canonical Allele Identifier: CA438939429
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs1453471605
gnomAD v2: 4-39207306-C-T
gnomAD v4: 4-39205686-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205686C>T , CM000666.2:g.39205686C>T GRCh38
NC_000004.11:g.39207306C>T , CM000666.1:g.39207306C>T GRCh37
NC_000004.10:g.38883701C>T NCBI36
NG_031813.1:g.28283C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.840C>T MANE Select ENSP00000382717.3:p.Ser280=
ENST00000399820.7:c.840C>T ENSP00000382717.3:p.Ser280=
ENST00000503697.5:c.*308C>T ENSP00000423706.1:n.*308C>T
ENST00000506503.1:c.840C>T ENSP00000423491.1:p.Ser280=
ENST00000506869.5:c.*421C>T ENSP00000424319.1:n.*421C>T
ENST00000511729.5:n.41-22872C>T
ENST00000512448.1:n.434C>T
NM_025132.3:c.840C>T NP_079408.3:p.Ser280=
XM_011513724.1:c.840C>T XP_011512026.1:p.Ser280=
XM_011513725.1:c.774C>T XP_011512027.1:p.Ser258=
XM_011513726.1:c.360C>T XP_011512028.1:p.Ser120=
XM_011513727.1:c.360C>T XP_011512029.1:p.Ser120=
XM_011513728.1:c.360C>T XP_011512030.1:p.Ser120=
XM_011513729.1:c.840C>T XP_011512031.1:p.Ser280=
XR_925155.1:n.904C>T
NM_001317924.1:c.360C>T NP_001304853.1:p.Ser120=
XM_011513725.2:c.774C>T XP_011512027.1:p.Ser258=
XM_011513726.3:c.360C>T XP_011512028.1:p.Ser120=
XM_017008501.1:c.360C>T XP_016863990.1:p.Ser120=
XR_001741306.1:n.904C>T
XR_001741307.1:n.904C>T
XR_001741308.1:n.904C>T
XR_001741309.1:n.904C>T
XR_001741310.1:n.904C>T
XR_001741311.2:n.753C>T
XR_001741312.1:n.904C>T
NM_025132.4:c.840C>T MANE Select NP_079408.3:p.Ser280=
NM_001317924.2:c.360C>T NP_001304853.1:p.Ser120=