Canonical Allele Identifier: CA356638348

Gene: WDR19

Linked Data

• dbSNP Id: rs1732298984
• gnomAD v3: 4-39244486-C-T
• gnomAD v4: 4-39244486-C-T
• MyVariant Identifiers: chr4:g.39246106C>T (hg19) ; chr4:g.39244486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39244486C>T , CM000666.2:g.39244486C>T	GRCh38
NC_000004.11:g.39246106C>T , CM000666.1:g.39246106C>T	GRCh37
NC_000004.10:g.38922501C>T	NCBI36
NG_031813.1:g.67083C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2579C>T MANE Select	ENSP00000382717.3:p.Ala860Val
ENST00000399820.7:c.2579C>T	ENSP00000382717.3:p.Ala860Val
ENST00000506869.5:c.*2160C>T	ENSP00000424319.1:n.*2160C>T
ENST00000512095.5:n.1577C>T
NM_025132.3:c.2579C>T	NP_079408.3:p.Ala860Val
XM_011513724.1:c.2591C>T	XP_011512026.1:p.Ala864Val
XM_011513725.1:c.2525C>T	XP_011512027.1:p.Ala842Val
XM_011513726.1:c.2111C>T	XP_011512028.1:p.Ala704Val
XM_011513727.1:c.2111C>T	XP_011512029.1:p.Ala704Val
XM_011513728.1:c.2099C>T	XP_011512030.1:p.Ala700Val
XM_011513729.1:c.2591C>T	XP_011512031.1:p.Ala864Val
XR_925155.1:n.2655C>T
NM_001317924.1:c.2099C>T	NP_001304853.1:p.Ala700Val
XM_011513725.2:c.2525C>T	XP_011512027.1:p.Ala842Val
XM_011513726.3:c.2111C>T	XP_011512028.1:p.Ala704Val
XM_017008501.1:c.2099C>T	XP_016863990.1:p.Ala700Val
XR_001741306.1:n.2655C>T
XR_001741307.1:n.2643C>T
XR_001741308.1:n.2655C>T
XR_001741309.1:n.2643C>T
XR_001741310.1:n.2643C>T
XR_001741311.2:n.2492C>T
NM_025132.4:c.2579C>T MANE Select	NP_079408.3:p.Ala860Val
NM_001317924.2:c.2099C>T	NP_001304853.1:p.Ala700Val