Canonical Allele Identifier: CA356630223
Community Standard Title: NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)
Gene: WDR19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39185733T>C , CM000666.2:g.39185733T>C GRCh38
NC_000004.11:g.39187353T>C , CM000666.1:g.39187353T>C GRCh37
NC_000004.10:g.38863748T>C NCBI36
NG_031813.1:g.8330T>C

Transcript Alleles

HGVS Amino-acid Change
NM_025132.4:c.14T>C MANE Select NP_079408.3:p.Phe5Ser
ENST00000399820.8:c.14T>C MANE Select ENSP00000382717.3:p.Phe5Ser
NM_001317924.1:c.-351T>C NP_001304853.1:n.-351T>C
NM_001317924.2:c.-351T>C NP_001304853.1:n.-351T>C
NM_025132.3:c.14T>C NP_079408.3:p.Phe5Ser
ENST00000399820.7:c.14T>C ENSP00000382717.3:p.Phe5Ser
ENST00000502389.1:n.41T>C
ENST00000503697.5:c.14T>C ENSP00000423706.1:p.Phe5Ser
ENST00000505055.5:c.14T>C ENSP00000425949.1:p.Phe5Ser
ENST00000506503.1:c.14T>C ENSP00000423491.1:p.Phe5Ser
ENST00000506869.5:c.14T>C ENSP00000424319.1:p.Phe5Ser
ENST00000509560.5:c.-79-806T>C ENSP00000426918.1:n.-79-806T>C
ENST00000511729.5:n.40+3170T>C
ENST00000512112.5:c.-266-806T>C ENSP00000421888.1:n.-266-806T>C
XM_011513724.1:c.14T>C XP_011512026.1:p.Phe5Ser
XM_011513725.1:c.14T>C XP_011512027.1:p.Phe5Ser
XM_011513725.2:c.14T>C XP_011512027.1:p.Phe5Ser
XM_011513726.1:c.-351T>C XP_011512028.1:n.-351T>C
XM_011513726.3:c.-351T>C XP_011512028.1:n.-351T>C
XM_011513727.1:c.-285T>C XP_011512029.1:n.-285T>C
XM_011513728.1:c.-351T>C XP_011512030.1:n.-351T>C
XM_011513729.1:c.14T>C XP_011512031.1:p.Phe5Ser
XM_017008501.1:c.-285T>C XP_016863990.1:n.-285T>C
XR_001741306.1:n.78T>C
XR_001741307.1:n.78T>C
XR_001741308.1:n.78T>C
XR_001741309.1:n.78T>C
XR_001741310.1:n.78T>C
XR_001741311.2:n.43T>C
XR_001741312.1:n.78T>C
XR_925155.1:n.78T>C