Canonical Allele Identifier: CA16042553

Gene: WDR19

Linked Data

• ClinVar Variation Id: 372998
• ClinVar RCV Id: RCV000414473
• dbSNP Id: rs776687469
• MyVariant Identifiers: chr4:g.39207194G>T (hg19) ; chr4:g.39205574G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205574G>T , CM000666.2:g.39205574G>T	GRCh38
NC_000004.11:g.39207194G>T , CM000666.1:g.39207194G>T	GRCh37
NC_000004.10:g.38883589G>T	NCBI36
NG_031813.1:g.28171G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.728G>T MANE Select	ENSP00000382717.3:p.Gly243Val
ENST00000399820.7:c.728G>T	ENSP00000382717.3:p.Gly243Val
ENST00000503697.5:c.*196G>T	ENSP00000423706.1:n.*196G>T
ENST00000506503.1:c.728G>T	ENSP00000423491.1:p.Gly243Val
ENST00000506869.5:c.*309G>T	ENSP00000424319.1:n.*309G>T
ENST00000511729.5:n.41-22984G>T
ENST00000512448.1:n.322G>T
NM_025132.3:c.728G>T	NP_079408.3:p.Gly243Val
XM_011513724.1:c.728G>T	XP_011512026.1:p.Gly243Val
XM_011513725.1:c.662G>T	XP_011512027.1:p.Gly221Val
XM_011513726.1:c.248G>T	XP_011512028.1:p.Gly83Val
XM_011513727.1:c.248G>T	XP_011512029.1:p.Gly83Val
XM_011513728.1:c.248G>T	XP_011512030.1:p.Gly83Val
XM_011513729.1:c.728G>T	XP_011512031.1:p.Gly243Val
XR_925155.1:n.792G>T
NM_001317924.1:c.248G>T	NP_001304853.1:p.Gly83Val
XM_011513725.2:c.662G>T	XP_011512027.1:p.Gly221Val
XM_011513726.3:c.248G>T	XP_011512028.1:p.Gly83Val
XM_017008501.1:c.248G>T	XP_016863990.1:p.Gly83Val
XR_001741306.1:n.792G>T
XR_001741307.1:n.792G>T
XR_001741308.1:n.792G>T
XR_001741309.1:n.792G>T
XR_001741310.1:n.792G>T
XR_001741311.2:n.641G>T
XR_001741312.1:n.792G>T
NM_025132.4:c.728G>T MANE Select	NP_079408.3:p.Gly243Val
NM_001317924.2:c.248G>T	NP_001304853.1:p.Gly83Val