Canonical Allele Identifier: CA10588960
Gene: WDR19 HGNC NCBI

Linked Data

ClinVar Variation Id: 266105
dbSNP Id: rs886039814

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39218060C>G , CM000666.2:g.39218060C>G GRCh38
NC_000004.11:g.39219680C>G , CM000666.1:g.39219680C>G GRCh37
NC_000004.10:g.38896075C>G NCBI36
NG_031813.1:g.40657C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.1434C>G MANE Select ENSP00000382717.3:p.Ile478Met
ENST00000399820.7:c.1434C>G ENSP00000382717.3:p.Ile478Met
ENST00000506503.1:c.1430C>G ENSP00000423491.1:p.Ser477Cys
ENST00000506869.5:c.*1015C>G ENSP00000424319.1:n.*1015C>G
ENST00000511729.5:n.41-10498C>G
ENST00000512095.5:n.432C>G
NM_025132.3:c.1434C>G NP_079408.3:p.Ile478Met
XM_011513724.1:c.1434C>G XP_011512026.1:p.Ile478Met
XM_011513725.1:c.1368C>G XP_011512027.1:p.Ile456Met
XM_011513726.1:c.954C>G XP_011512028.1:p.Ile318Met
XM_011513727.1:c.954C>G XP_011512029.1:p.Ile318Met
XM_011513728.1:c.954C>G XP_011512030.1:p.Ile318Met
XM_011513729.1:c.1434C>G XP_011512031.1:p.Ile478Met
XR_925155.1:n.1498C>G
NM_001317924.1:c.954C>G NP_001304853.1:p.Ile318Met
XM_011513725.2:c.1368C>G XP_011512027.1:p.Ile456Met
XM_011513726.3:c.954C>G XP_011512028.1:p.Ile318Met
XM_017008501.1:c.954C>G XP_016863990.1:p.Ile318Met
XR_001741306.1:n.1498C>G
XR_001741307.1:n.1498C>G
XR_001741308.1:n.1498C>G
XR_001741309.1:n.1498C>G
XR_001741310.1:n.1498C>G
XR_001741311.2:n.1347C>G
XR_001741312.1:n.1498C>G
NM_025132.4:c.1434C>G MANE Select NP_079408.3:p.Ile478Met
NM_001317924.2:c.954C>G NP_001304853.1:p.Ile318Met