Canonical Allele Identifier: CA356633889

Gene: WDR19

Linked Data

• gnomAD v4: 4-39205202-G-C
• MyVariant Identifiers: chr4:g.39206822G>C (hg19) ; chr4:g.39205202G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205202G>C , CM000666.2:g.39205202G>C	GRCh38
NC_000004.11:g.39206822G>C , CM000666.1:g.39206822G>C	GRCh37
NC_000004.10:g.38883217G>C	NCBI36
NG_031813.1:g.27799G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.652G>C MANE Select	ENSP00000382717.3:p.Glu218Gln
ENST00000399820.7:c.652G>C	ENSP00000382717.3:p.Glu218Gln
ENST00000503697.5:c.*120G>C	ENSP00000423706.1:n.*120G>C
ENST00000505055.5:c.*233G>C	ENSP00000425949.1:n.*233G>C
ENST00000506503.1:c.652G>C	ENSP00000423491.1:p.Glu218Gln
ENST00000506869.5:c.*233G>C	ENSP00000424319.1:n.*233G>C
ENST00000511729.5:n.40+22639G>C
ENST00000512448.1:n.246G>C
NM_025132.3:c.652G>C	NP_079408.3:p.Glu218Gln
XM_011513724.1:c.652G>C	XP_011512026.1:p.Glu218Gln
XM_011513725.1:c.586G>C	XP_011512027.1:p.Glu196Gln
XM_011513726.1:c.172G>C	XP_011512028.1:p.Glu58Gln
XM_011513727.1:c.172G>C	XP_011512029.1:p.Glu58Gln
XM_011513728.1:c.172G>C	XP_011512030.1:p.Glu58Gln
XM_011513729.1:c.652G>C	XP_011512031.1:p.Glu218Gln
XR_925155.1:n.716G>C
NM_001317924.1:c.172G>C	NP_001304853.1:p.Glu58Gln
XM_011513725.2:c.586G>C	XP_011512027.1:p.Glu196Gln
XM_011513726.3:c.172G>C	XP_011512028.1:p.Glu58Gln
XM_017008501.1:c.172G>C	XP_016863990.1:p.Glu58Gln
XR_001741306.1:n.716G>C
XR_001741307.1:n.716G>C
XR_001741308.1:n.716G>C
XR_001741309.1:n.716G>C
XR_001741310.1:n.716G>C
XR_001741311.2:n.565G>C
XR_001741312.1:n.716G>C
NM_025132.4:c.652G>C MANE Select	NP_079408.3:p.Glu218Gln
NM_001317924.2:c.172G>C	NP_001304853.1:p.Glu58Gln