Canonical Allele Identifier: CA356647411

Gene: WDR19

Linked Data

• gnomAD v4: 4-39273029-G-T
• MyVariant Identifiers: chr4:g.39274649G>T (hg19) ; chr4:g.39273029G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39273029G>T , CM000666.2:g.39273029G>T	GRCh38
NC_000004.11:g.39274649G>T , CM000666.1:g.39274649G>T	GRCh37
NC_000004.10:g.38951044G>T	NCBI36
NG_031813.1:g.95626G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399820.8:c.3533G>T MANE Select	ENSP00000382717.3:p.Arg1178Leu
ENST00000399820.7:c.3533G>T	ENSP00000382717.3:p.Arg1178Leu
ENST00000506869.5:c.*3114G>T	ENSP00000424319.1:n.*3114G>T
ENST00000512095.5:n.2531G>T
ENST00000512534.5:n.98G>T
NM_025132.3:c.3533G>T	NP_079408.3:p.Arg1178Leu
XM_011513724.1:c.3545G>T	XP_011512026.1:p.Arg1182Leu
XM_011513725.1:c.3479G>T	XP_011512027.1:p.Arg1160Leu
XM_011513726.1:c.3065G>T	XP_011512028.1:p.Arg1022Leu
XM_011513727.1:c.3065G>T	XP_011512029.1:p.Arg1022Leu
XM_011513728.1:c.3053G>T	XP_011512030.1:p.Arg1018Leu
XR_925155.1:n.3609G>T
NM_001317924.1:c.3053G>T	NP_001304853.1:p.Arg1018Leu
XM_011513725.2:c.3479G>T	XP_011512027.1:p.Arg1160Leu
XM_011513726.3:c.3065G>T	XP_011512028.1:p.Arg1022Leu
XM_017008501.1:c.3053G>T	XP_016863990.1:p.Arg1018Leu
XR_001741306.1:n.3609G>T
XR_001741307.1:n.3597G>T
XR_001741308.1:n.3609G>T
XR_001741309.1:n.3597G>T
XR_001741310.1:n.3597G>T
XR_001741311.2:n.3446G>T
NM_025132.4:c.3533G>T MANE Select	NP_079408.3:p.Arg1178Leu
NM_001317924.2:c.3053G>T	NP_001304853.1:p.Arg1018Leu