Canonical Allele Identifier: CA2891496
Gene: WDR19 HGNC NCBI

Linked Data

ClinVar Variation Id: 348723
dbSNP Id: rs201198839
gnomAD v2: 4-39184188-A-G
gnomAD v3: 4-39182568-A-G
gnomAD v4: 4-39182568-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39182568A>G , CM000666.2:g.39182568A>G GRCh38
NC_000004.11:g.39184188A>G , CM000666.1:g.39184188A>G GRCh37
NC_000004.10:g.38860583A>G NCBI36
NG_031813.1:g.5165A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.6+5A>G MANE Select ENSP00000382717.3:n.6+5A>G
ENST00000399820.7:c.6+5A>G ENSP00000382717.3:n.6+5A>G
ENST00000502389.1:n.33+5A>G
ENST00000503697.5:c.6+5A>G ENSP00000423706.1:n.6+5A>G
ENST00000505055.5:c.6+5A>G ENSP00000425949.1:n.6+5A>G
ENST00000506503.1:c.6+5A>G ENSP00000423491.1:n.6+5A>G
ENST00000506869.5:c.6+5A>G ENSP00000424319.1:n.6+5A>G
ENST00000509560.5:c.-80+5A>G ENSP00000426918.1:n.-80+5A>G
ENST00000511729.5:n.40+5A>G
ENST00000512112.5:c.-267+5A>G ENSP00000421888.1:n.-267+5A>G
NM_025132.3:c.6+5A>G NP_079408.3:n.6+5A>G
XM_011513724.1:c.6+5A>G XP_011512026.1:n.6+5A>G
XM_011513725.1:c.6+5A>G XP_011512027.1:n.6+5A>G
XM_011513726.1:c.-359+5A>G XP_011512028.1:n.-359+5A>G
XM_011513727.1:c.-293+5A>G XP_011512029.1:n.-293+5A>G
XM_011513728.1:c.-359+5A>G XP_011512030.1:n.-359+5A>G
XM_011513729.1:c.6+5A>G XP_011512031.1:n.6+5A>G
XR_925155.1:n.70+5A>G
NM_001317924.1:c.-359+5A>G NP_001304853.1:n.-359+5A>G
XM_011513725.2:c.6+5A>G XP_011512027.1:n.6+5A>G
XM_011513726.3:c.-359+5A>G XP_011512028.1:n.-359+5A>G
XM_017008501.1:c.-293+5A>G XP_016863990.1:n.-293+5A>G
XR_001741306.1:n.70+5A>G
XR_001741307.1:n.70+5A>G
XR_001741308.1:n.70+5A>G
XR_001741309.1:n.70+5A>G
XR_001741310.1:n.70+5A>G
XR_001741311.2:n.35+5A>G
XR_001741312.1:n.70+5A>G
NM_025132.4:c.6+5A>G MANE Select NP_079408.3:n.6+5A>G
NM_001317924.2:c.-359+5A>G NP_001304853.1:n.-359+5A>G