Canonical Allele Identifier: CA2892033
Community Standard Title: NM_025132.4(WDR19):c.2239A>G (p.Ile747Val)
Gene: WDR19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39232258A>G , CM000666.2:g.39232258A>G GRCh38
NC_000004.11:g.39233878A>G , CM000666.1:g.39233878A>G GRCh37
NC_000004.10:g.38910273A>G NCBI36
NG_031813.1:g.54855A>G

Transcript Alleles

HGVS Amino-acid Change
NM_025132.4:c.2239A>G MANE Select NP_079408.3:p.Ile747Val
ENST00000399820.8:c.2239A>G MANE Select ENSP00000382717.3:p.Ile747Val
NM_001317924.1:c.1759A>G NP_001304853.1:p.Ile587Val
NM_001317924.2:c.1759A>G NP_001304853.1:p.Ile587Val
NM_025132.3:c.2239A>G NP_079408.3:p.Ile747Val
ENST00000399820.7:c.2239A>G ENSP00000382717.3:p.Ile747Val
ENST00000506869.5:c.*1820A>G ENSP00000424319.1:n.*1820A>G
ENST00000507228.1:c.389A>G
ENST00000511729.5:n.430A>G
ENST00000512095.5:n.1237A>G
ENST00000515631.1:n.393A>G
XM_011513724.1:c.2239A>G XP_011512026.1:p.Ile747Val
XM_011513725.1:c.2173A>G XP_011512027.1:p.Ile725Val
XM_011513725.2:c.2173A>G XP_011512027.1:p.Ile725Val
XM_011513726.1:c.1759A>G XP_011512028.1:p.Ile587Val
XM_011513726.3:c.1759A>G XP_011512028.1:p.Ile587Val
XM_011513727.1:c.1759A>G XP_011512029.1:p.Ile587Val
XM_011513728.1:c.1759A>G XP_011512030.1:p.Ile587Val
XM_011513729.1:c.2239A>G XP_011512031.1:p.Ile747Val
XM_017008501.1:c.1759A>G XP_016863990.1:p.Ile587Val
XR_001741306.1:n.2303A>G
XR_001741307.1:n.2303A>G
XR_001741308.1:n.2303A>G
XR_001741309.1:n.2303A>G
XR_001741310.1:n.2303A>G
XR_001741311.2:n.2152A>G
XR_001741312.1:n.2303A>G
XR_925155.1:n.2303A>G