Canonical Allele Identifier: CA10620972

Gene: WDR19

Linked Data

• ClinVar Variation Id: 348739
• ClinVar RCV Id: RCV000335670 ; RCV000397851 ; RCV002523470
• dbSNP Id: rs886059398
• gnomAD v2: 4-39230260-G-A
• gnomAD v3: 4-39228640-G-A
• gnomAD v4: 4-39228640-G-A
• MyVariant Identifiers: chr4:g.39230260G>A (hg19) ; chr4:g.39228640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39228640G>A , CM000666.2:g.39228640G>A	GRCh38
NC_000004.11:g.39230260G>A , CM000666.1:g.39230260G>A	GRCh37
NC_000004.10:g.38906655G>A	NCBI36
NG_031813.1:g.51237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.1932G>A MANE Select	ENSP00000382717.3:p.Thr644=
ENST00000399820.7:c.1932G>A	ENSP00000382717.3:p.Thr644=
ENST00000506869.5:c.*1513G>A	ENSP00000424319.1:n.*1513G>A
ENST00000507228.1:c.110G>A
ENST00000511729.5:n.123G>A
ENST00000512095.5:n.930G>A
ENST00000515631.1:n.86G>A
NM_025132.3:c.1932G>A	NP_079408.3:p.Thr644=
XM_011513724.1:c.1932G>A	XP_011512026.1:p.Thr644=
XM_011513725.1:c.1866G>A	XP_011512027.1:p.Thr622=
XM_011513726.1:c.1452G>A	XP_011512028.1:p.Thr484=
XM_011513727.1:c.1452G>A	XP_011512029.1:p.Thr484=
XM_011513728.1:c.1452G>A	XP_011512030.1:p.Thr484=
XM_011513729.1:c.1932G>A	XP_011512031.1:p.Thr644=
XR_925155.1:n.1996G>A
NM_001317924.1:c.1452G>A	NP_001304853.1:p.Thr484=
XM_011513725.2:c.1866G>A	XP_011512027.1:p.Thr622=
XM_011513726.3:c.1452G>A	XP_011512028.1:p.Thr484=
XM_017008501.1:c.1452G>A	XP_016863990.1:p.Thr484=
XR_001741306.1:n.1996G>A
XR_001741307.1:n.1996G>A
XR_001741308.1:n.1996G>A
XR_001741309.1:n.1996G>A
XR_001741310.1:n.1996G>A
XR_001741311.2:n.1845G>A
XR_001741312.1:n.1996G>A
NM_025132.4:c.1932G>A MANE Select	NP_079408.3:p.Thr644=
NM_001317924.2:c.1452G>A	NP_001304853.1:p.Thr484=