Canonical Allele Identifier: CA235263
Gene: WDR19 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.39253208A>C
GRCh37 chr4:g.39254828A>C
Revel Score:
ENST00000399820 (MANE Select) 0.308
ENST00000288634 0.308
gnomAD v2:
4:39254828 A / C
gnomAD v3:
4:39253208 A / C
gnomAD v4:
chr4-39253208-A-C
Joint Max Group AF 0.00725839 (NFE)
Genomes Max Group AF 0.00448898 (NFE)
Exomes Max Group AF 0.00740407 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39253208A>C , CM000666.2:g.39253208A>C GRCh38
NC_000004.11:g.39254828A>C , CM000666.1:g.39254828A>C GRCh37
NC_000004.10:g.38931223A>C NCBI36
NG_031813.1:g.75805A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.2792A>C MANE Select ENSP00000382717.3:p.Tyr931Ser
ENST00000399820.7:c.2792A>C ENSP00000382717.3:p.Tyr931Ser
ENST00000506869.5:c.*2373A>C ENSP00000424319.1:n.*2373A>C
ENST00000512095.5:n.1790A>C
NM_025132.3:c.2792A>C NP_079408.3:p.Tyr931Ser
XM_011513724.1:c.2804A>C XP_011512026.1:p.Tyr935Ser
XM_011513725.1:c.2738A>C XP_011512027.1:p.Tyr913Ser
XM_011513726.1:c.2324A>C XP_011512028.1:p.Tyr775Ser
XM_011513727.1:c.2324A>C XP_011512029.1:p.Tyr775Ser
XM_011513728.1:c.2312A>C XP_011512030.1:p.Tyr771Ser
XM_011513729.1:c.2804A>C XP_011512031.1:p.Tyr935Ser
XR_925155.1:n.2868A>C
NM_001317924.1:c.2312A>C NP_001304853.1:p.Tyr771Ser
XM_011513725.2:c.2738A>C XP_011512027.1:p.Tyr913Ser
XM_011513726.3:c.2324A>C XP_011512028.1:p.Tyr775Ser
XM_017008501.1:c.2312A>C XP_016863990.1:p.Tyr771Ser
XR_001741306.1:n.2868A>C
XR_001741307.1:n.2856A>C
XR_001741308.1:n.2868A>C
XR_001741309.1:n.2856A>C
XR_001741310.1:n.2856A>C
XR_001741311.2:n.2705A>C
NM_025132.4:c.2792A>C MANE Select NP_079408.3:p.Tyr931Ser
NM_001317924.2:c.2312A>C NP_001304853.1:p.Tyr771Ser
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