Canonical Allele Identifier: CA356634241

Gene: WDR19

Linked Data

• ClinVar Variation Id: 1043189
• ClinVar RCV Id: RCV001347262
• dbSNP Id: rs1727857328
• gnomAD v4: 4-39205573-G-A
• MyVariant Identifiers: chr4:g.39207193G>A (hg19) ; chr4:g.39205573G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205573G>A , CM000666.2:g.39205573G>A	GRCh38
NC_000004.11:g.39207193G>A , CM000666.1:g.39207193G>A	GRCh37
NC_000004.10:g.38883588G>A	NCBI36
NG_031813.1:g.28170G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.727G>A MANE Select	ENSP00000382717.3:p.Gly243Ser
ENST00000399820.7:c.727G>A	ENSP00000382717.3:p.Gly243Ser
ENST00000503697.5:c.*195G>A	ENSP00000423706.1:n.*195G>A
ENST00000506503.1:c.727G>A	ENSP00000423491.1:p.Gly243Ser
ENST00000506869.5:c.*308G>A	ENSP00000424319.1:n.*308G>A
ENST00000511729.5:n.41-22985G>A
ENST00000512448.1:n.321G>A
NM_025132.3:c.727G>A	NP_079408.3:p.Gly243Ser
XM_011513724.1:c.727G>A	XP_011512026.1:p.Gly243Ser
XM_011513725.1:c.661G>A	XP_011512027.1:p.Gly221Ser
XM_011513726.1:c.247G>A	XP_011512028.1:p.Gly83Ser
XM_011513727.1:c.247G>A	XP_011512029.1:p.Gly83Ser
XM_011513728.1:c.247G>A	XP_011512030.1:p.Gly83Ser
XM_011513729.1:c.727G>A	XP_011512031.1:p.Gly243Ser
XR_925155.1:n.791G>A
NM_001317924.1:c.247G>A	NP_001304853.1:p.Gly83Ser
XM_011513725.2:c.661G>A	XP_011512027.1:p.Gly221Ser
XM_011513726.3:c.247G>A	XP_011512028.1:p.Gly83Ser
XM_017008501.1:c.247G>A	XP_016863990.1:p.Gly83Ser
XR_001741306.1:n.791G>A
XR_001741307.1:n.791G>A
XR_001741308.1:n.791G>A
XR_001741309.1:n.791G>A
XR_001741310.1:n.791G>A
XR_001741311.2:n.640G>A
XR_001741312.1:n.791G>A
NM_025132.4:c.727G>A MANE Select	NP_079408.3:p.Gly243Ser
NM_001317924.2:c.247G>A	NP_001304853.1:p.Gly83Ser