Canonical Allele Identifier: CA2242366318
Gene: VPS53 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.532830C= , CM000679.2:g.532830C= GRCh38
NC_000017.10:g.436070C= , CM000679.1:g.436070C= GRCh37
NC_000017.9:g.382820C= NCBI36
NG_034190.1:g.187027G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291074.10:c.2010G= ENSP00000291074.5:p.Thr670=
ENST00000437048.7:c.2085+12G= MANE Select ENSP00000401435.2:n.2085+12G=
ENST00000571805.6:c.2097G= ENSP00000459312.1:p.Thr699=
ENST00000679817.1:c.327G= ENSP00000505032.1:p.Thr109=
ENST00000680128.1:c.1893G= ENSP00000506159.1:p.Thr631=
ENST00000680465.1:c.2085+12G= ENSP00000505997.1:n.2085+12G=
ENST00000680641.1:c.*3334+12G= ENSP00000505237.1:n.*3334+12G=
ENST00000680872.1:c.*1211+12G= ENSP00000506605.1:n.*1211+12G=
ENST00000681050.1:c.298+12G=
ENST00000681096.1:c.1638G= ENSP00000506052.1:p.Thr546=
ENST00000681103.1:c.315+12G= ENSP00000505892.1:n.315+12G=
ENST00000681160.1:c.1716+12G= ENSP00000504905.1:n.1716+12G=
ENST00000681317.1:c.2015+4198G= ENSP00000505190.1:n.2015+4198G=
ENST00000681478.1:c.*1917G= ENSP00000505041.1:n.*1917G=
ENST00000681510.1:c.1935+12G= ENSP00000505594.1:n.1935+12G=
ENST00000681600.1:n.1180+12G=
ENST00000681661.1:c.*1066+12G= ENSP00000506596.1:n.*1066+12G=
ENST00000681858.1:c.315+12G= ENSP00000505044.1:n.315+12G=
ENST00000681917.1:c.1554+12G= ENSP00000505944.1:n.1554+12G=
ENST00000681943.1:c.1803+12G= ENSP00000504889.1:n.1803+12G=
ENST00000681946.1:c.*1066+12G= ENSP00000505563.1:n.*1066+12G=
ENST00000291074.9:c.2010G= ENSP00000291074.5:p.Thr670=
ENST00000389040.9:c.1900G= ENSP00000373692.5:n.1900G=
ENST00000401468.7:c.1266G= ENSP00000384294.3:p.Thr422=
ENST00000437048.6:c.2085+12G= ENSP00000401435.2:n.2085+12G=
ENST00000570771.1:n.152+12G=
ENST00000571805.5:c.2097G= ENSP00000459312.1:p.Thr699=
ENST00000573028.5:c.*1544G= ENSP00000458311.1:n.*1544G=
ENST00000574029.5:c.207-15191G= ENSP00000459159.1:n.207-15191G=
ENST00000576149.5:n.1855+12G=
NM_001128159.2:c.2085+12G= NP_001121631.1:n.2085+12G=
NM_018289.3:c.2010G= NP_060759.2:p.Thr670=
XM_011523953.1:c.1503G= XP_011522255.1:p.Thr501=
XR_934061.1:n.2382+12G=
XR_934133.1:n.291-7559C=
NM_001366253.1:c.2097G= NP_001353182.1:p.Thr699=
NM_001366254.1:c.1503G= NP_001353183.1:p.Thr501=
XM_017024817.2:c.1935+12G= XP_016880306.1:n.1935+12G=
XM_017024818.1:c.1716+12G= XP_016880307.1:n.1716+12G=
XR_001752553.2:n.2222+12G=
XR_934061.3:n.2372+12G=
NM_001128159.3:c.2085+12G= MANE Select NP_001121631.1:n.2085+12G=
NM_001366253.2:c.2097G= NP_001353182.1:p.Thr699=
NM_001366254.2:c.1503G= NP_001353183.1:p.Thr501=
NM_018289.4:c.2010G= NP_060759.2:p.Thr670=