Canonical Allele Identifier: CA151410

Gene: WDR19

Linked Data

• ClinVar Variation Id: 127157
• ClinVar RCV Id: RCV000115013 ; RCV000788500 ; RCV001281118 ; RCV001854544 ; RCV002477273
• dbSNP Id: rs587777351
• ExAC: 4:39276565 G / A
• gnomAD v2: 4-39276565-G-A
• gnomAD v3: 4-39274945-G-A
• gnomAD v4: 4-39274945-G-A
• MyVariant Identifiers: chr4:g.39276565G>A (hg19) ; chr4:g.39274945G>A (hg38)
• PubMed: PMID:23559409

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39274945G>A , CM000666.2:g.39274945G>A	GRCh38
NC_000004.11:g.39276565G>A , CM000666.1:g.39276565G>A	GRCh37
NC_000004.10:g.38952960G>A	NCBI36
NG_031813.1:g.97542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.3703G>A MANE Select	ENSP00000382717.3:p.Glu1235Lys
ENST00000399820.7:c.3703G>A	ENSP00000382717.3:p.Glu1235Lys
ENST00000506869.5:c.*3284G>A	ENSP00000424319.1:n.*3284G>A
ENST00000512095.5:n.2701G>A
ENST00000512534.5:n.2014G>A
NM_025132.3:c.3703G>A	NP_079408.3:p.Glu1235Lys
XM_011513724.1:c.3715G>A	XP_011512026.1:p.Glu1239Lys
XM_011513725.1:c.3649G>A	XP_011512027.1:p.Glu1217Lys
XM_011513726.1:c.3235G>A	XP_011512028.1:p.Glu1079Lys
XM_011513727.1:c.3235G>A	XP_011512029.1:p.Glu1079Lys
XM_011513728.1:c.3223G>A	XP_011512030.1:p.Glu1075Lys
XR_925155.1:n.5413G>A
NM_001317924.1:c.3223G>A	NP_001304853.1:p.Glu1075Lys
XM_011513725.2:c.3649G>A	XP_011512027.1:p.Glu1217Lys
XM_011513726.3:c.3235G>A	XP_011512028.1:p.Glu1079Lys
XM_017008501.1:c.3223G>A	XP_016863990.1:p.Glu1075Lys
XR_001741306.1:n.3779G>A
XR_001741307.1:n.3767G>A
XR_001741308.1:n.5413G>A
XR_001741309.1:n.5401G>A
XR_001741310.1:n.5401G>A
XR_001741311.2:n.5250G>A
NM_025132.4:c.3703G>A MANE Select	NP_079408.3:p.Glu1235Lys
NM_001317924.2:c.3223G>A	NP_001304853.1:p.Glu1075Lys