Canonical Allele Identifier: CA356652251
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs745603321
gnomAD v2: 4-39278723-G-C
gnomAD v4: 4-39277103-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39277103G>C , CM000666.2:g.39277103G>C GRCh38
NC_000004.11:g.39278723G>C , CM000666.1:g.39278723G>C GRCh37
NC_000004.10:g.38955118G>C NCBI36
NG_031813.1:g.99700G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000399820.8:c.3800G>C MANE Select ENSP00000382717.3:p.Cys1267Ser
ENST00000399820.7:c.3800G>C ENSP00000382717.3:p.Cys1267Ser
ENST00000503733.1:n.140G>C
ENST00000506869.5:c.*3381G>C ENSP00000424319.1:n.*3381G>C
ENST00000512534.5:n.2111G>C
ENST00000512588.5:n.142G>C
NM_025132.3:c.3800G>C NP_079408.3:p.Cys1267Ser
XM_011513724.1:c.3812G>C XP_011512026.1:p.Cys1271Ser
XM_011513725.1:c.3746G>C XP_011512027.1:p.Cys1249Ser
XM_011513726.1:c.3332G>C XP_011512028.1:p.Cys1111Ser
XM_011513727.1:c.3332G>C XP_011512029.1:p.Cys1111Ser
XM_011513728.1:c.3320G>C XP_011512030.1:p.Cys1107Ser
XR_925155.1:n.5510G>C
NM_001317924.1:c.3320G>C NP_001304853.1:p.Cys1107Ser
XM_011513725.2:c.3746G>C XP_011512027.1:p.Cys1249Ser
XM_011513726.3:c.3332G>C XP_011512028.1:p.Cys1111Ser
XM_017008501.1:c.3320G>C XP_016863990.1:p.Cys1107Ser
XR_001741306.1:n.4077G>C
XR_001741307.1:n.4065G>C
XR_001741308.1:n.5711G>C
XR_001741309.1:n.5498G>C
XR_001741310.1:n.5699G>C
XR_001741311.2:n.5347G>C
NM_025132.4:c.3800G>C MANE Select NP_079408.3:p.Cys1267Ser
NM_001317924.2:c.3320G>C NP_001304853.1:p.Cys1107Ser