Canonical Allele Identifier: CA356633849

Gene: WDR19

Linked Data

• gnomAD v4: 4-39205192-A-T
• MyVariant Identifiers: chr4:g.39206812A>T (hg19) ; chr4:g.39205192A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205192A>T , CM000666.2:g.39205192A>T	GRCh38
NC_000004.11:g.39206812A>T , CM000666.1:g.39206812A>T	GRCh37
NC_000004.10:g.38883207A>T	NCBI36
NG_031813.1:g.27789A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.642A>T MANE Select	ENSP00000382717.3:p.Leu214Phe
ENST00000399820.7:c.642A>T	ENSP00000382717.3:p.Leu214Phe
ENST00000503697.5:c.*110A>T	ENSP00000423706.1:n.*110A>T
ENST00000505055.5:c.*223A>T	ENSP00000425949.1:n.*223A>T
ENST00000506503.1:c.642A>T	ENSP00000423491.1:p.Leu214Phe
ENST00000506869.5:c.*223A>T	ENSP00000424319.1:n.*223A>T
ENST00000511729.5:n.40+22629A>T
ENST00000512448.1:n.236A>T
NM_025132.3:c.642A>T	NP_079408.3:p.Leu214Phe
XM_011513724.1:c.642A>T	XP_011512026.1:p.Leu214Phe
XM_011513725.1:c.576A>T	XP_011512027.1:p.Leu192Phe
XM_011513726.1:c.162A>T	XP_011512028.1:p.Leu54Phe
XM_011513727.1:c.162A>T	XP_011512029.1:p.Leu54Phe
XM_011513728.1:c.162A>T	XP_011512030.1:p.Leu54Phe
XM_011513729.1:c.642A>T	XP_011512031.1:p.Leu214Phe
XR_925155.1:n.706A>T
NM_001317924.1:c.162A>T	NP_001304853.1:p.Leu54Phe
XM_011513725.2:c.576A>T	XP_011512027.1:p.Leu192Phe
XM_011513726.3:c.162A>T	XP_011512028.1:p.Leu54Phe
XM_017008501.1:c.162A>T	XP_016863990.1:p.Leu54Phe
XR_001741306.1:n.706A>T
XR_001741307.1:n.706A>T
XR_001741308.1:n.706A>T
XR_001741309.1:n.706A>T
XR_001741310.1:n.706A>T
XR_001741311.2:n.555A>T
XR_001741312.1:n.706A>T
NM_025132.4:c.642A>T MANE Select	NP_079408.3:p.Leu214Phe
NM_001317924.2:c.162A>T	NP_001304853.1:p.Leu54Phe