Canonical Allele Identifier: CA356637288

Gene: WDR19

Linked Data

• dbSNP Id: rs1283244133
• gnomAD v4: 4-39244270-C-T
• MyVariant Identifiers: chr4:g.39245890C>T (hg19) ; chr4:g.39244270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39244270C>T , CM000666.2:g.39244270C>T	GRCh38
NC_000004.11:g.39245890C>T , CM000666.1:g.39245890C>T	GRCh37
NC_000004.10:g.38922285C>T	NCBI36
NG_031813.1:g.66867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2444C>T MANE Select	ENSP00000382717.3:p.Ala815Val
ENST00000399820.7:c.2444C>T	ENSP00000382717.3:p.Ala815Val
ENST00000506869.5:c.*2025C>T	ENSP00000424319.1:n.*2025C>T
ENST00000512095.5:n.1442C>T
NM_025132.3:c.2444C>T	NP_079408.3:p.Ala815Val
XM_011513724.1:c.2456C>T	XP_011512026.1:p.Ala819Val
XM_011513725.1:c.2390C>T	XP_011512027.1:p.Ala797Val
XM_011513726.1:c.1976C>T	XP_011512028.1:p.Ala659Val
XM_011513727.1:c.1976C>T	XP_011512029.1:p.Ala659Val
XM_011513728.1:c.1964C>T	XP_011512030.1:p.Ala655Val
XM_011513729.1:c.2456C>T	XP_011512031.1:p.Ala819Val
XR_925155.1:n.2520C>T
NM_001317924.1:c.1964C>T	NP_001304853.1:p.Ala655Val
XM_011513725.2:c.2390C>T	XP_011512027.1:p.Ala797Val
XM_011513726.3:c.1976C>T	XP_011512028.1:p.Ala659Val
XM_017008501.1:c.1964C>T	XP_016863990.1:p.Ala655Val
XR_001741306.1:n.2520C>T
XR_001741307.1:n.2508C>T
XR_001741308.1:n.2520C>T
XR_001741309.1:n.2508C>T
XR_001741310.1:n.2508C>T
XR_001741311.2:n.2357C>T
NM_025132.4:c.2444C>T MANE Select	NP_079408.3:p.Ala815Val
NM_001317924.2:c.1964C>T	NP_001304853.1:p.Ala655Val