Canonical Allele Identifier: CA356634286

Gene: WDR19

Linked Data

• gnomAD v4: 4-39205595-C-T
• MyVariant Identifiers: chr4:g.39207215C>T (hg19) ; chr4:g.39205595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205595C>T , CM000666.2:g.39205595C>T	GRCh38
NC_000004.11:g.39207215C>T , CM000666.1:g.39207215C>T	GRCh37
NC_000004.10:g.38883610C>T	NCBI36
NG_031813.1:g.28192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.749C>T MANE Select	ENSP00000382717.3:p.Ser250Leu
ENST00000399820.7:c.749C>T	ENSP00000382717.3:p.Ser250Leu
ENST00000503697.5:c.*217C>T	ENSP00000423706.1:n.*217C>T
ENST00000506503.1:c.749C>T	ENSP00000423491.1:p.Ser250Leu
ENST00000506869.5:c.*330C>T	ENSP00000424319.1:n.*330C>T
ENST00000511729.5:n.41-22963C>T
ENST00000512448.1:n.343C>T
NM_025132.3:c.749C>T	NP_079408.3:p.Ser250Leu
XM_011513724.1:c.749C>T	XP_011512026.1:p.Ser250Leu
XM_011513725.1:c.683C>T	XP_011512027.1:p.Ser228Leu
XM_011513726.1:c.269C>T	XP_011512028.1:p.Ser90Leu
XM_011513727.1:c.269C>T	XP_011512029.1:p.Ser90Leu
XM_011513728.1:c.269C>T	XP_011512030.1:p.Ser90Leu
XM_011513729.1:c.749C>T	XP_011512031.1:p.Ser250Leu
XR_925155.1:n.813C>T
NM_001317924.1:c.269C>T	NP_001304853.1:p.Ser90Leu
XM_011513725.2:c.683C>T	XP_011512027.1:p.Ser228Leu
XM_011513726.3:c.269C>T	XP_011512028.1:p.Ser90Leu
XM_017008501.1:c.269C>T	XP_016863990.1:p.Ser90Leu
XR_001741306.1:n.813C>T
XR_001741307.1:n.813C>T
XR_001741308.1:n.813C>T
XR_001741309.1:n.813C>T
XR_001741310.1:n.813C>T
XR_001741311.2:n.662C>T
XR_001741312.1:n.813C>T
NM_025132.4:c.749C>T MANE Select	NP_079408.3:p.Ser250Leu
NM_001317924.2:c.269C>T	NP_001304853.1:p.Ser90Leu