Canonical Allele Identifier: CA95704883

Gene: WDR19

Linked Data

• ClinVar Variation Id: 542762
• ClinVar RCV Id: RCV002499125
• dbSNP Id: rs1035768119
• gnomAD v3: 4-39277111-T-A
• gnomAD v4: 4-39277111-T-A
• MyVariant Identifiers: chr4:g.39278731T>A (hg19) ; chr4:g.39277111T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39277111T>A , CM000666.2:g.39277111T>A	GRCh38
NC_000004.11:g.39278731T>A , CM000666.1:g.39278731T>A	GRCh37
NC_000004.10:g.38955126T>A	NCBI36
NG_031813.1:g.99708T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399820.8:c.3808T>A MANE Select	ENSP00000382717.3:p.Cys1270Ser
ENST00000399820.7:c.3808T>A	ENSP00000382717.3:p.Cys1270Ser
ENST00000503733.1:n.148T>A
ENST00000506869.5:c.*3389T>A	ENSP00000424319.1:n.*3389T>A
ENST00000512534.5:n.2119T>A
ENST00000512588.5:n.150T>A
NM_025132.3:c.3808T>A	NP_079408.3:p.Cys1270Ser
XM_011513724.1:c.3820T>A	XP_011512026.1:p.Cys1274Ser
XM_011513725.1:c.3754T>A	XP_011512027.1:p.Cys1252Ser
XM_011513726.1:c.3340T>A	XP_011512028.1:p.Cys1114Ser
XM_011513727.1:c.3340T>A	XP_011512029.1:p.Cys1114Ser
XM_011513728.1:c.3328T>A	XP_011512030.1:p.Cys1110Ser
XR_925155.1:n.5518T>A
NM_001317924.1:c.3328T>A	NP_001304853.1:p.Cys1110Ser
XM_011513725.2:c.3754T>A	XP_011512027.1:p.Cys1252Ser
XM_011513726.3:c.3340T>A	XP_011512028.1:p.Cys1114Ser
XM_017008501.1:c.3328T>A	XP_016863990.1:p.Cys1110Ser
XR_001741306.1:n.4085T>A
XR_001741307.1:n.4073T>A
XR_001741308.1:n.5719T>A
XR_001741309.1:n.5506T>A
XR_001741310.1:n.5707T>A
XR_001741311.2:n.5355T>A
NM_025132.4:c.3808T>A MANE Select	NP_079408.3:p.Cys1270Ser
NM_001317924.2:c.3328T>A	NP_001304853.1:p.Cys1110Ser