Canonical Allele Identifier: CA624299543

Gene: VPS53

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.661804C>T , CM000679.2:g.661804C>T	GRCh38
NC_000017.10:g.565044C>T , CM000679.1:g.565044C>T	GRCh37
NC_000017.9:g.511794C>T	NCBI36
NG_034190.1:g.58053G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001128159.3:c.372+5G>A MANE Select	NP_001121631.1:n.372+5G>A
ENST00000437048.7:c.372+5G>A MANE Select	ENSP00000401435.2:n.372+5G>A
NM_001128159.2:c.372+5G>A	NP_001121631.1:n.372+5G>A
NM_001366253.1:c.372+5G>A	NP_001353182.1:n.372+5G>A
NM_001366253.2:c.372+5G>A	NP_001353182.1:n.372+5G>A
NM_001366254.1:c.-321+5G>A	NP_001353183.1:n.-321+5G>A
NM_001366254.2:c.-321+5G>A	NP_001353183.1:n.-321+5G>A
NM_018289.3:c.286-5851G>A	NP_060759.2:n.286-5851G>A
NM_018289.4:c.286-5851G>A	NP_060759.2:n.286-5851G>A
ENST00000291074.10:c.286-5851G>A	ENSP00000291074.5:n.286-5851G>A
ENST00000291074.9:c.286-5851G>A	ENSP00000291074.5:n.286-5851G>A
ENST00000389040.9:c.372+5G>A	ENSP00000373692.5:n.372+5G>A
ENST00000401468.7:c.285+35614G>A	ENSP00000384294.3:n.285+35614G>A
ENST00000437048.6:c.372+5G>A	ENSP00000401435.2:n.372+5G>A
ENST00000571805.5:c.372+5G>A	ENSP00000459312.1:n.372+5G>A
ENST00000571805.6:c.372+5G>A	ENSP00000459312.1:n.372+5G>A
ENST00000572334.6:n.246+5G>A
ENST00000572334.7:c.3+5G>A	ENSP00000506188.1:n.3+5G>A
ENST00000573028.5:c.372+5G>A	ENSP00000458311.1:n.372+5G>A
ENST00000574029.5:c.206+37539G>A	ENSP00000459159.1:n.206+37539G>A
ENST00000575207.5:n.454+5G>A
ENST00000575207.6:c.372+5G>A	ENSP00000504867.1:n.372+5G>A
ENST00000576019.5:c.3+5G>A	ENSP00000461429.1:n.3+5G>A
ENST00000576019.6:c.372+5G>A	ENSP00000461429.2:n.372+5G>A
ENST00000576149.5:n.228+14376G>A
ENST00000679361.1:c.372+5G>A	ENSP00000504978.1:n.372+5G>A
ENST00000679680.1:c.222+5G>A	ENSP00000506269.1:n.222+5G>A
ENST00000679961.1:c.169-5851G>A	ENSP00000505902.1:n.169-5851G>A
ENST00000680069.1:c.372+5G>A	ENSP00000505145.1:n.372+5G>A
ENST00000680128.1:c.169-5851G>A	ENSP00000506159.1:n.169-5851G>A
ENST00000680274.1:n.79-5851G>A
ENST00000680465.1:c.372+5G>A	ENSP00000505997.1:n.372+5G>A
ENST00000680641.1:c.*192+5G>A	ENSP00000505237.1:n.*192+5G>A
ENST00000680660.1:n.143-4144G>A
ENST00000680704.1:c.3+5G>A	ENSP00000506453.1:n.3+5G>A
ENST00000680872.1:c.372+5G>A	ENSP00000506605.1:n.372+5G>A
ENST00000680958.1:n.337-5851G>A
ENST00000681035.1:n.255+5G>A
ENST00000681096.1:c.-87-5851G>A	ENSP00000506052.1:n.-87-5851G>A
ENST00000681120.1:c.3+5G>A	ENSP00000506067.1:n.3+5G>A
ENST00000681133.1:c.372+5G>A	ENSP00000506475.1:n.372+5G>A
ENST00000681154.1:c.286-5851G>A	ENSP00000505866.1:n.286-5851G>A
ENST00000681160.1:c.-757-4255G>A	ENSP00000504905.1:n.-757-4255G>A
ENST00000681229.1:c.372+5G>A	ENSP00000505837.1:n.372+5G>A
ENST00000681317.1:c.372+5G>A	ENSP00000505190.1:n.372+5G>A
ENST00000681478.1:c.*192+5G>A	ENSP00000505041.1:n.*192+5G>A
ENST00000681510.1:c.222+5G>A	ENSP00000505594.1:n.222+5G>A
ENST00000681661.1:c.372+5G>A	ENSP00000506596.1:n.372+5G>A
ENST00000681902.1:c.372+5G>A	ENSP00000505328.1:n.372+5G>A
ENST00000681917.1:c.372+5G>A	ENSP00000505944.1:n.372+5G>A
ENST00000681946.1:c.372+5G>A	ENSP00000505563.1:n.372+5G>A
XM_011523953.1:c.-321+5G>A	XP_011522255.1:n.-321+5G>A
XM_017024817.2:c.222+5G>A	XP_016880306.1:n.222+5G>A
XR_001752553.2:n.509+5G>A
XR_934061.1:n.519+5G>A
XR_934061.3:n.509+5G>A
XR_934062.1:n.519+5G>A
XR_934062.2:n.509+5G>A