Canonical Allele Identifier: CA356633735
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs758413433
gnomAD v3: 4-39205163-G-A
gnomAD v4: 4-39205163-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205163G>A , CM000666.2:g.39205163G>A GRCh38
NC_000004.11:g.39206783G>A , CM000666.1:g.39206783G>A GRCh37
NC_000004.10:g.38883178G>A NCBI36
NG_031813.1:g.27760G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.613G>A MANE Select ENSP00000382717.3:p.Val205Met
ENST00000399820.7:c.613G>A ENSP00000382717.3:p.Val205Met
ENST00000503697.5:c.*81G>A ENSP00000423706.1:n.*81G>A
ENST00000505055.5:c.*194G>A ENSP00000425949.1:n.*194G>A
ENST00000506503.1:c.613G>A ENSP00000423491.1:p.Val205Met
ENST00000506869.5:c.*194G>A ENSP00000424319.1:n.*194G>A
ENST00000511729.5:n.40+22600G>A
ENST00000512448.1:n.207G>A
NM_025132.3:c.613G>A NP_079408.3:p.Val205Met
XM_011513724.1:c.613G>A XP_011512026.1:p.Val205Met
XM_011513725.1:c.547G>A XP_011512027.1:p.Val183Met
XM_011513726.1:c.133G>A XP_011512028.1:p.Val45Met
XM_011513727.1:c.133G>A XP_011512029.1:p.Val45Met
XM_011513728.1:c.133G>A XP_011512030.1:p.Val45Met
XM_011513729.1:c.613G>A XP_011512031.1:p.Val205Met
XR_925155.1:n.677G>A
NM_001317924.1:c.133G>A NP_001304853.1:p.Val45Met
XM_011513725.2:c.547G>A XP_011512027.1:p.Val183Met
XM_011513726.3:c.133G>A XP_011512028.1:p.Val45Met
XM_017008501.1:c.133G>A XP_016863990.1:p.Val45Met
XR_001741306.1:n.677G>A
XR_001741307.1:n.677G>A
XR_001741308.1:n.677G>A
XR_001741309.1:n.677G>A
XR_001741310.1:n.677G>A
XR_001741311.2:n.526G>A
XR_001741312.1:n.677G>A
NM_025132.4:c.613G>A MANE Select NP_079408.3:p.Val205Met
NM_001317924.2:c.133G>A NP_001304853.1:p.Val45Met