Canonical Allele Identifier: CA2891691

Gene: WDR19

Linked Data

• dbSNP Id: rs751402776
• ExAC: 4:39207203 T / C
• gnomAD v2: 4-39207203-T-C
• gnomAD v3: 4-39205583-T-C
• gnomAD v4: 4-39205583-T-C
• MyVariant Identifiers: chr4:g.39207203T>C (hg19) ; chr4:g.39205583T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205583T>C , CM000666.2:g.39205583T>C	GRCh38
NC_000004.11:g.39207203T>C , CM000666.1:g.39207203T>C	GRCh37
NC_000004.10:g.38883598T>C	NCBI36
NG_031813.1:g.28180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.737T>C MANE Select	ENSP00000382717.3:p.Met246Thr
ENST00000399820.7:c.737T>C	ENSP00000382717.3:p.Met246Thr
ENST00000503697.5:c.*205T>C	ENSP00000423706.1:n.*205T>C
ENST00000506503.1:c.737T>C	ENSP00000423491.1:p.Met246Thr
ENST00000506869.5:c.*318T>C	ENSP00000424319.1:n.*318T>C
ENST00000511729.5:n.41-22975T>C
ENST00000512448.1:n.331T>C
NM_025132.3:c.737T>C	NP_079408.3:p.Met246Thr
XM_011513724.1:c.737T>C	XP_011512026.1:p.Met246Thr
XM_011513725.1:c.671T>C	XP_011512027.1:p.Met224Thr
XM_011513726.1:c.257T>C	XP_011512028.1:p.Met86Thr
XM_011513727.1:c.257T>C	XP_011512029.1:p.Met86Thr
XM_011513728.1:c.257T>C	XP_011512030.1:p.Met86Thr
XM_011513729.1:c.737T>C	XP_011512031.1:p.Met246Thr
XR_925155.1:n.801T>C
NM_001317924.1:c.257T>C	NP_001304853.1:p.Met86Thr
XM_011513725.2:c.671T>C	XP_011512027.1:p.Met224Thr
XM_011513726.3:c.257T>C	XP_011512028.1:p.Met86Thr
XM_017008501.1:c.257T>C	XP_016863990.1:p.Met86Thr
XR_001741306.1:n.801T>C
XR_001741307.1:n.801T>C
XR_001741308.1:n.801T>C
XR_001741309.1:n.801T>C
XR_001741310.1:n.801T>C
XR_001741311.2:n.650T>C
XR_001741312.1:n.801T>C
NM_025132.4:c.737T>C MANE Select	NP_079408.3:p.Met246Thr
NM_001317924.2:c.257T>C	NP_001304853.1:p.Met86Thr