Canonical Allele Identifier: CA356647309
Gene: WDR19 HGNC NCBI

Linked Data

gnomAD v4: 4-39273013-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39273013G>T , CM000666.2:g.39273013G>T GRCh38
NC_000004.11:g.39274633G>T , CM000666.1:g.39274633G>T GRCh37
NC_000004.10:g.38951028G>T NCBI36
NG_031813.1:g.95610G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.3517G>T MANE Select ENSP00000382717.3:p.Ala1173Ser
ENST00000399820.7:c.3517G>T ENSP00000382717.3:p.Ala1173Ser
ENST00000506869.5:c.*3098G>T ENSP00000424319.1:n.*3098G>T
ENST00000512095.5:n.2515G>T
ENST00000512534.5:n.82G>T
NM_025132.3:c.3517G>T NP_079408.3:p.Ala1173Ser
XM_011513724.1:c.3529G>T XP_011512026.1:p.Ala1177Ser
XM_011513725.1:c.3463G>T XP_011512027.1:p.Ala1155Ser
XM_011513726.1:c.3049G>T XP_011512028.1:p.Ala1017Ser
XM_011513727.1:c.3049G>T XP_011512029.1:p.Ala1017Ser
XM_011513728.1:c.3037G>T XP_011512030.1:p.Ala1013Ser
XR_925155.1:n.3593G>T
NM_001317924.1:c.3037G>T NP_001304853.1:p.Ala1013Ser
XM_011513725.2:c.3463G>T XP_011512027.1:p.Ala1155Ser
XM_011513726.3:c.3049G>T XP_011512028.1:p.Ala1017Ser
XM_017008501.1:c.3037G>T XP_016863990.1:p.Ala1013Ser
XR_001741306.1:n.3593G>T
XR_001741307.1:n.3581G>T
XR_001741308.1:n.3593G>T
XR_001741309.1:n.3581G>T
XR_001741310.1:n.3581G>T
XR_001741311.2:n.3430G>T
NM_025132.4:c.3517G>T MANE Select NP_079408.3:p.Ala1173Ser
NM_001317924.2:c.3037G>T NP_001304853.1:p.Ala1013Ser