Canonical Allele Identifier: CA95703911
Gene: WDR19 HGNC NCBI

Linked Data

dbSNP Id: rs185919523
gnomAD v3: 4-39275136-T-C
gnomAD v4: 4-39275136-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39275136T>C , CM000666.2:g.39275136T>C GRCh38
NC_000004.11:g.39276756T>C , CM000666.1:g.39276756T>C GRCh37
NC_000004.10:g.38953151T>C NCBI36
NG_031813.1:g.97733T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.3716+178T>C MANE Select ENSP00000382717.3:n.3716+178T>C
ENST00000399820.7:c.3716+178T>C ENSP00000382717.3:n.3716+178T>C
ENST00000506869.5:c.*3297+178T>C ENSP00000424319.1:n.*3297+178T>C
ENST00000512095.5:n.2892T>C
ENST00000512534.5:n.2027+178T>C
NM_025132.3:c.3716+178T>C NP_079408.3:n.3716+178T>C
XM_011513724.1:c.3728+178T>C XP_011512026.1:n.3728+178T>C
XM_011513725.1:c.3662+178T>C XP_011512027.1:n.3662+178T>C
XM_011513726.1:c.3248+178T>C XP_011512028.1:n.3248+178T>C
XM_011513727.1:c.3248+178T>C XP_011512029.1:n.3248+178T>C
XM_011513728.1:c.3236+178T>C XP_011512030.1:n.3236+178T>C
XR_925155.1:n.5426+178T>C
NM_001317924.1:c.3236+178T>C NP_001304853.1:n.3236+178T>C
XM_011513725.2:c.3662+178T>C XP_011512027.1:n.3662+178T>C
XM_011513726.3:c.3248+178T>C XP_011512028.1:n.3248+178T>C
XM_017008501.1:c.3236+178T>C XP_016863990.1:n.3236+178T>C
XR_001741306.1:n.3792+178T>C
XR_001741307.1:n.3780+178T>C
XR_001741308.1:n.5426+178T>C
XR_001741309.1:n.5414+178T>C
XR_001741310.1:n.5414+178T>C
XR_001741311.2:n.5263+178T>C
NM_025132.4:c.3716+178T>C MANE Select NP_079408.3:n.3716+178T>C
NM_001317924.2:c.3236+178T>C NP_001304853.1:n.3236+178T>C