Canonical Allele Identifier: CA356634096

Gene: WDR19

Linked Data

• gnomAD v4: 4-39205251-T-C
• MyVariant Identifiers: chr4:g.39206871T>C (hg19) ; chr4:g.39205251T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205251T>C , CM000666.2:g.39205251T>C	GRCh38
NC_000004.11:g.39206871T>C , CM000666.1:g.39206871T>C	GRCh37
NC_000004.10:g.38883266T>C	NCBI36
NG_031813.1:g.27848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.701T>C MANE Select	ENSP00000382717.3:p.Ile234Thr
ENST00000399820.7:c.701T>C	ENSP00000382717.3:p.Ile234Thr
ENST00000503697.5:c.*169T>C	ENSP00000423706.1:n.*169T>C
ENST00000505055.5:c.*282T>C	ENSP00000425949.1:n.*282T>C
ENST00000506503.1:c.701T>C	ENSP00000423491.1:p.Ile234Thr
ENST00000506869.5:c.*282T>C	ENSP00000424319.1:n.*282T>C
ENST00000511729.5:n.40+22688T>C
ENST00000512448.1:n.295T>C
NM_025132.3:c.701T>C	NP_079408.3:p.Ile234Thr
XM_011513724.1:c.701T>C	XP_011512026.1:p.Ile234Thr
XM_011513725.1:c.635T>C	XP_011512027.1:p.Ile212Thr
XM_011513726.1:c.221T>C	XP_011512028.1:p.Ile74Thr
XM_011513727.1:c.221T>C	XP_011512029.1:p.Ile74Thr
XM_011513728.1:c.221T>C	XP_011512030.1:p.Ile74Thr
XM_011513729.1:c.701T>C	XP_011512031.1:p.Ile234Thr
XR_925155.1:n.765T>C
NM_001317924.1:c.221T>C	NP_001304853.1:p.Ile74Thr
XM_011513725.2:c.635T>C	XP_011512027.1:p.Ile212Thr
XM_011513726.3:c.221T>C	XP_011512028.1:p.Ile74Thr
XM_017008501.1:c.221T>C	XP_016863990.1:p.Ile74Thr
XR_001741306.1:n.765T>C
XR_001741307.1:n.765T>C
XR_001741308.1:n.765T>C
XR_001741309.1:n.765T>C
XR_001741310.1:n.765T>C
XR_001741311.2:n.614T>C
XR_001741312.1:n.765T>C
NM_025132.4:c.701T>C MANE Select	NP_079408.3:p.Ile234Thr
NM_001317924.2:c.221T>C	NP_001304853.1:p.Ile74Thr