Canonical Allele Identifier: CA2892066

Gene: WDR19

Linked Data

• ClinVar Variation Id: 286677
• ClinVar RCV Id: RCV000274698 ; RCV002519251 ; RCV001088018
• dbSNP Id: rs199904529
• ExAC: 4:39241898 G / A
• gnomAD v2: 4-39241898-G-A
• gnomAD v3: 4-39240278-G-A
• gnomAD v4: 4-39240278-G-A
• MyVariant Identifiers: chr4:g.39241898G>A (hg19) ; chr4:g.39240278G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39240278G>A , CM000666.2:g.39240278G>A	GRCh38
NC_000004.11:g.39241898G>A , CM000666.1:g.39241898G>A	GRCh37
NC_000004.10:g.38918293G>A	NCBI36
NG_031813.1:g.62875G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2365G>A MANE Select	ENSP00000382717.3:p.Gly789Ser
ENST00000399820.7:c.2365G>A	ENSP00000382717.3:p.Gly789Ser
ENST00000506869.5:c.*1946G>A	ENSP00000424319.1:n.*1946G>A
ENST00000507228.1:c.515G>A
ENST00000512095.5:n.1363G>A
NM_025132.3:c.2365G>A	NP_079408.3:p.Gly789Ser
XM_011513724.1:c.2377G>A	XP_011512026.1:p.Gly793Ser
XM_011513725.1:c.2311G>A	XP_011512027.1:p.Gly771Ser
XM_011513726.1:c.1897G>A	XP_011512028.1:p.Gly633Ser
XM_011513727.1:c.1897G>A	XP_011512029.1:p.Gly633Ser
XM_011513728.1:c.1885G>A	XP_011512030.1:p.Gly629Ser
XM_011513729.1:c.2377G>A	XP_011512031.1:p.Gly793Ser
XR_925155.1:n.2441G>A
NM_001317924.1:c.1885G>A	NP_001304853.1:p.Gly629Ser
XM_011513725.2:c.2311G>A	XP_011512027.1:p.Gly771Ser
XM_011513726.3:c.1897G>A	XP_011512028.1:p.Gly633Ser
XM_017008501.1:c.1885G>A	XP_016863990.1:p.Gly629Ser
XR_001741306.1:n.2441G>A
XR_001741307.1:n.2429G>A
XR_001741308.1:n.2441G>A
XR_001741309.1:n.2429G>A
XR_001741310.1:n.2429G>A
XR_001741311.2:n.2278G>A
XR_001741312.1:n.2465G>A
NM_025132.4:c.2365G>A MANE Select	NP_079408.3:p.Gly789Ser
NM_001317924.2:c.1885G>A	NP_001304853.1:p.Gly629Ser