Canonical Allele Identifier: CA356647435

Gene: WDR19

Linked Data

• dbSNP Id: rs1284947759
• gnomAD v2: 4-39274655-C-T
• gnomAD v4: 4-39273035-C-T
• MyVariant Identifiers: chr4:g.39274655C>T (hg19) ; chr4:g.39273035C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39273035C>T , CM000666.2:g.39273035C>T	GRCh38
NC_000004.11:g.39274655C>T , CM000666.1:g.39274655C>T	GRCh37
NC_000004.10:g.38951050C>T	NCBI36
NG_031813.1:g.95632C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399820.8:c.3539C>T MANE Select	ENSP00000382717.3:p.Ala1180Val
ENST00000399820.7:c.3539C>T	ENSP00000382717.3:p.Ala1180Val
ENST00000506869.5:c.*3120C>T	ENSP00000424319.1:n.*3120C>T
ENST00000512095.5:n.2537C>T
ENST00000512534.5:n.104C>T
NM_025132.3:c.3539C>T	NP_079408.3:p.Ala1180Val
XM_011513724.1:c.3551C>T	XP_011512026.1:p.Ala1184Val
XM_011513725.1:c.3485C>T	XP_011512027.1:p.Ala1162Val
XM_011513726.1:c.3071C>T	XP_011512028.1:p.Ala1024Val
XM_011513727.1:c.3071C>T	XP_011512029.1:p.Ala1024Val
XM_011513728.1:c.3059C>T	XP_011512030.1:p.Ala1020Val
XR_925155.1:n.3615C>T
NM_001317924.1:c.3059C>T	NP_001304853.1:p.Ala1020Val
XM_011513725.2:c.3485C>T	XP_011512027.1:p.Ala1162Val
XM_011513726.3:c.3071C>T	XP_011512028.1:p.Ala1024Val
XM_017008501.1:c.3059C>T	XP_016863990.1:p.Ala1020Val
XR_001741306.1:n.3615C>T
XR_001741307.1:n.3603C>T
XR_001741308.1:n.3615C>T
XR_001741309.1:n.3603C>T
XR_001741310.1:n.3603C>T
XR_001741311.2:n.3452C>T
NM_025132.4:c.3539C>T MANE Select	NP_079408.3:p.Ala1180Val
NM_001317924.2:c.3059C>T	NP_001304853.1:p.Ala1020Val