Canonical Allele Identifier: CA2892006

Gene: WDR19

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39231910G>A , CM000666.2:g.39231910G>A	GRCh38
NC_000004.11:g.39233530G>A , CM000666.1:g.39233530G>A	GRCh37
NC_000004.10:g.38909925G>A	NCBI36
NG_031813.1:g.54507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2096G>A MANE Select	ENSP00000382717.3:p.Arg699Gln
ENST00000399820.7:c.2096G>A	ENSP00000382717.3:p.Arg699Gln
ENST00000506869.5:c.*1677G>A	ENSP00000424319.1:n.*1677G>A
ENST00000507228.1:c.274G>A
ENST00000511729.5:n.287G>A
ENST00000512095.5:n.1094G>A
ENST00000515631.1:n.250G>A
NM_025132.3:c.2096G>A	NP_079408.3:p.Arg699Gln
XM_011513724.1:c.2096G>A	XP_011512026.1:p.Arg699Gln
XM_011513725.1:c.2030G>A	XP_011512027.1:p.Arg677Gln
XM_011513726.1:c.1616G>A	XP_011512028.1:p.Arg539Gln
XM_011513727.1:c.1616G>A	XP_011512029.1:p.Arg539Gln
XM_011513728.1:c.1616G>A	XP_011512030.1:p.Arg539Gln
XM_011513729.1:c.2096G>A	XP_011512031.1:p.Arg699Gln
XR_925155.1:n.2160G>A
NM_001317924.1:c.1616G>A	NP_001304853.1:p.Arg539Gln
XM_011513725.2:c.2030G>A	XP_011512027.1:p.Arg677Gln
XM_011513726.3:c.1616G>A	XP_011512028.1:p.Arg539Gln
XM_017008501.1:c.1616G>A	XP_016863990.1:p.Arg539Gln
XR_001741306.1:n.2160G>A
XR_001741307.1:n.2160G>A
XR_001741308.1:n.2160G>A
XR_001741309.1:n.2160G>A
XR_001741310.1:n.2160G>A
XR_001741311.2:n.2009G>A
XR_001741312.1:n.2160G>A
NM_025132.4:c.2096G>A MANE Select	NP_079408.3:p.Arg699Gln
NM_001317924.2:c.1616G>A	NP_001304853.1:p.Arg539Gln