Canonical Allele Identifier: CA356637514

Gene: WDR19

Linked Data

• ClinVar Variation Id: 2105508
• ClinVar RCV Id: RCV003023488
• MyVariant Identifiers: chr4:g.39245997G>A (hg19) ; chr4:g.39244377G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39244377G>A , CM000666.2:g.39244377G>A	GRCh38
NC_000004.11:g.39245997G>A , CM000666.1:g.39245997G>A	GRCh37
NC_000004.10:g.38922392G>A	NCBI36
NG_031813.1:g.66974G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000399820.8:c.2551G>A MANE Select	ENSP00000382717.3:p.Glu851Lys
ENST00000399820.7:c.2551G>A	ENSP00000382717.3:p.Glu851Lys
ENST00000506869.5:c.*2132G>A	ENSP00000424319.1:n.*2132G>A
ENST00000512095.5:n.1549G>A
NM_025132.3:c.2551G>A	NP_079408.3:p.Glu851Lys
XM_011513724.1:c.2563G>A	XP_011512026.1:p.Glu855Lys
XM_011513725.1:c.2497G>A	XP_011512027.1:p.Glu833Lys
XM_011513726.1:c.2083G>A	XP_011512028.1:p.Glu695Lys
XM_011513727.1:c.2083G>A	XP_011512029.1:p.Glu695Lys
XM_011513728.1:c.2071G>A	XP_011512030.1:p.Glu691Lys
XM_011513729.1:c.2563G>A	XP_011512031.1:p.Glu855Lys
XR_925155.1:n.2627G>A
NM_001317924.1:c.2071G>A	NP_001304853.1:p.Glu691Lys
XM_011513725.2:c.2497G>A	XP_011512027.1:p.Glu833Lys
XM_011513726.3:c.2083G>A	XP_011512028.1:p.Glu695Lys
XM_017008501.1:c.2071G>A	XP_016863990.1:p.Glu691Lys
XR_001741306.1:n.2627G>A
XR_001741307.1:n.2615G>A
XR_001741308.1:n.2627G>A
XR_001741309.1:n.2615G>A
XR_001741310.1:n.2615G>A
XR_001741311.2:n.2464G>A
NM_025132.4:c.2551G>A MANE Select	NP_079408.3:p.Glu851Lys
NM_001317924.2:c.2071G>A	NP_001304853.1:p.Glu691Lys