Canonical Allele Identifier: CA356634371
Gene: WDR19 HGNC NCBI

Linked Data

gnomAD v4: 4-39205636-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205636C>G , CM000666.2:g.39205636C>G GRCh38
NC_000004.11:g.39207256C>G , CM000666.1:g.39207256C>G GRCh37
NC_000004.10:g.38883651C>G NCBI36
NG_031813.1:g.28233C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.790C>G MANE Select ENSP00000382717.3:p.Leu264Val
ENST00000399820.7:c.790C>G ENSP00000382717.3:p.Leu264Val
ENST00000503697.5:c.*258C>G ENSP00000423706.1:n.*258C>G
ENST00000506503.1:c.790C>G ENSP00000423491.1:p.Leu264Val
ENST00000506869.5:c.*371C>G ENSP00000424319.1:n.*371C>G
ENST00000511729.5:n.41-22922C>G
ENST00000512448.1:n.384C>G
NM_025132.3:c.790C>G NP_079408.3:p.Leu264Val
XM_011513724.1:c.790C>G XP_011512026.1:p.Leu264Val
XM_011513725.1:c.724C>G XP_011512027.1:p.Leu242Val
XM_011513726.1:c.310C>G XP_011512028.1:p.Leu104Val
XM_011513727.1:c.310C>G XP_011512029.1:p.Leu104Val
XM_011513728.1:c.310C>G XP_011512030.1:p.Leu104Val
XM_011513729.1:c.790C>G XP_011512031.1:p.Leu264Val
XR_925155.1:n.854C>G
NM_001317924.1:c.310C>G NP_001304853.1:p.Leu104Val
XM_011513725.2:c.724C>G XP_011512027.1:p.Leu242Val
XM_011513726.3:c.310C>G XP_011512028.1:p.Leu104Val
XM_017008501.1:c.310C>G XP_016863990.1:p.Leu104Val
XR_001741306.1:n.854C>G
XR_001741307.1:n.854C>G
XR_001741308.1:n.854C>G
XR_001741309.1:n.854C>G
XR_001741310.1:n.854C>G
XR_001741311.2:n.703C>G
XR_001741312.1:n.854C>G
NM_025132.4:c.790C>G MANE Select NP_079408.3:p.Leu264Val
NM_001317924.2:c.310C>G NP_001304853.1:p.Leu104Val