Canonical Allele Identifier: CA356632420

Gene: WDR19

Linked Data

• ClinVar Variation Id: 446637
• ClinVar RCV Id: RCV000515949
• dbSNP Id: rs1451698951
• gnomAD v2: 4-39201166-G-A
• gnomAD v4: 4-39199546-G-A
• MyVariant Identifiers: chr4:g.39201166G>A (hg19) ; chr4:g.39199546G>A (hg38)
• PubMed: PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39199546G>A , CM000666.2:g.39199546G>A	GRCh38
NC_000004.11:g.39201166G>A , CM000666.1:g.39201166G>A	GRCh37
NC_000004.10:g.38877561G>A	NCBI36
NG_031813.1:g.22143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.475G>A MANE Select	ENSP00000382717.3:p.Asp159Asn
ENST00000399820.7:c.475G>A	ENSP00000382717.3:p.Asp159Asn
ENST00000503697.5:c.291-4096G>A	ENSP00000423706.1:n.291-4096G>A
ENST00000505055.5:c.*56G>A	ENSP00000425949.1:n.*56G>A
ENST00000506503.1:c.475G>A	ENSP00000423491.1:p.Asp159Asn
ENST00000506869.5:c.*56G>A	ENSP00000424319.1:n.*56G>A
ENST00000509560.5:c.298G>A	ENSP00000426918.1:p.Asp100Asn
ENST00000511729.5:n.40+16983G>A
ENST00000512112.5:c.-6G>A	ENSP00000421888.1:n.-6G>A
ENST00000512448.1:n.69G>A
NM_025132.3:c.475G>A	NP_079408.3:p.Asp159Asn
XM_011513724.1:c.475G>A	XP_011512026.1:p.Asp159Asn
XM_011513725.1:c.409G>A	XP_011512027.1:p.Asp137Asn
XM_011513726.1:c.-6G>A	XP_011512028.1:n.-6G>A
XM_011513727.1:c.-6G>A	XP_011512029.1:n.-6G>A
XM_011513728.1:c.-6G>A	XP_011512030.1:n.-6G>A
XM_011513729.1:c.475G>A	XP_011512031.1:p.Asp159Asn
XR_925155.1:n.539G>A
NM_001317924.1:c.-6G>A	NP_001304853.1:n.-6G>A
XM_011513725.2:c.409G>A	XP_011512027.1:p.Asp137Asn
XM_011513726.3:c.-6G>A	XP_011512028.1:n.-6G>A
XM_017008501.1:c.-6G>A	XP_016863990.1:n.-6G>A
XR_001741306.1:n.539G>A
XR_001741307.1:n.539G>A
XR_001741308.1:n.539G>A
XR_001741309.1:n.539G>A
XR_001741310.1:n.539G>A
XR_001741311.2:n.388G>A
XR_001741312.1:n.539G>A
NM_025132.4:c.475G>A MANE Select	NP_079408.3:p.Asp159Asn
NM_001317924.2:c.-6G>A	NP_001304853.1:n.-6G>A