Canonical Allele Identifier: CA95681971
Gene: WDR19 HGNC NCBI

Linked Data

ClinVar Variation Id: 2005379
ClinVar RCV Id: RCV002820988
dbSNP Id: rs865941062

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39244289C>T , CM000666.2:g.39244289C>T GRCh38
NC_000004.11:g.39245909C>T , CM000666.1:g.39245909C>T GRCh37
NC_000004.10:g.38922304C>T NCBI36
NG_031813.1:g.66886C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000399820.8:c.2463C>T MANE Select ENSP00000382717.3:p.Ser821=
ENST00000399820.7:c.2463C>T ENSP00000382717.3:p.Ser821=
ENST00000506869.5:c.*2044C>T ENSP00000424319.1:n.*2044C>T
ENST00000512095.5:n.1461C>T
NM_025132.3:c.2463C>T NP_079408.3:p.Ser821=
XM_011513724.1:c.2475C>T XP_011512026.1:p.Ser825=
XM_011513725.1:c.2409C>T XP_011512027.1:p.Ser803=
XM_011513726.1:c.1995C>T XP_011512028.1:p.Ser665=
XM_011513727.1:c.1995C>T XP_011512029.1:p.Ser665=
XM_011513728.1:c.1983C>T XP_011512030.1:p.Ser661=
XM_011513729.1:c.2475C>T XP_011512031.1:p.Ser825=
XR_925155.1:n.2539C>T
NM_001317924.1:c.1983C>T NP_001304853.1:p.Ser661=
XM_011513725.2:c.2409C>T XP_011512027.1:p.Ser803=
XM_011513726.3:c.1995C>T XP_011512028.1:p.Ser665=
XM_017008501.1:c.1983C>T XP_016863990.1:p.Ser661=
XR_001741306.1:n.2539C>T
XR_001741307.1:n.2527C>T
XR_001741308.1:n.2539C>T
XR_001741309.1:n.2527C>T
XR_001741310.1:n.2527C>T
XR_001741311.2:n.2376C>T
NM_025132.4:c.2463C>T MANE Select NP_079408.3:p.Ser821=
NM_001317924.2:c.1983C>T NP_001304853.1:p.Ser661=