Canonical Allele Identifier: CA356647383

Gene: WDR19

Linked Data

• gnomAD v4: 4-39273025-A-C
• MyVariant Identifiers: chr4:g.39274645A>C (hg19) ; chr4:g.39273025A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39273025A>C , CM000666.2:g.39273025A>C	GRCh38
NC_000004.11:g.39274645A>C , CM000666.1:g.39274645A>C	GRCh37
NC_000004.10:g.38951040A>C	NCBI36
NG_031813.1:g.95622A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.3529A>C MANE Select	ENSP00000382717.3:p.Ile1177Leu
ENST00000399820.7:c.3529A>C	ENSP00000382717.3:p.Ile1177Leu
ENST00000506869.5:c.*3110A>C	ENSP00000424319.1:n.*3110A>C
ENST00000512095.5:n.2527A>C
ENST00000512534.5:n.94A>C
NM_025132.3:c.3529A>C	NP_079408.3:p.Ile1177Leu
XM_011513724.1:c.3541A>C	XP_011512026.1:p.Ile1181Leu
XM_011513725.1:c.3475A>C	XP_011512027.1:p.Ile1159Leu
XM_011513726.1:c.3061A>C	XP_011512028.1:p.Ile1021Leu
XM_011513727.1:c.3061A>C	XP_011512029.1:p.Ile1021Leu
XM_011513728.1:c.3049A>C	XP_011512030.1:p.Ile1017Leu
XR_925155.1:n.3605A>C
NM_001317924.1:c.3049A>C	NP_001304853.1:p.Ile1017Leu
XM_011513725.2:c.3475A>C	XP_011512027.1:p.Ile1159Leu
XM_011513726.3:c.3061A>C	XP_011512028.1:p.Ile1021Leu
XM_017008501.1:c.3049A>C	XP_016863990.1:p.Ile1017Leu
XR_001741306.1:n.3605A>C
XR_001741307.1:n.3593A>C
XR_001741308.1:n.3605A>C
XR_001741309.1:n.3593A>C
XR_001741310.1:n.3593A>C
XR_001741311.2:n.3442A>C
NM_025132.4:c.3529A>C MANE Select	NP_079408.3:p.Ile1177Leu
NM_001317924.2:c.3049A>C	NP_001304853.1:p.Ile1017Leu