Canonical Allele Identifier: CA393861502
Gene: VPS33B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91017831G>A , CM000677.2:g.91017831G>A GRCh38
NC_000015.9:g.91561061G>A , CM000677.1:g.91561061G>A GRCh37
NC_000015.8:g.89362065G>A NCBI36
NG_012162.1:g.9773C>T , LRG_884:g.9773C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.151C>T MANE Select ENSP00000327650.4:p.Arg51Ter
ENST00000643536.1:c.151C>T ENSP00000494429.1:p.Arg51Ter
ENST00000647331.1:c.151C>T ENSP00000493953.1:p.Arg51Ter
ENST00000333371.7:c.151C>T ENSP00000327650.3:p.Arg51Ter
ENST00000535906.1:c.97-807C>T ENSP00000444053.1:n.97-807C>T
ENST00000554264.5:n.74C>T
ENST00000556096.6:n.505C>T
ENST00000557358.1:n.444-3398C>T
ENST00000574755.5:c.151C>T ENSP00000460413.1:p.Arg51Ter
NM_001289148.1:c.97-807C>T NP_001276077.1:n.97-807C>T
NM_001289149.1:c.-61C>T NP_001276078.1:n.-61C>T
NM_018668.4:c.151C>T , LRG_884t1:c.151C>T NP_061138.3:p.Arg51Ter
XM_005254884.2:c.151C>T XP_005254941.1:p.Arg51Ter
XM_005254887.1:c.-34-3398C>T XP_005254944.1:n.-34-3398C>T
XM_005254888.2:c.151C>T XP_005254945.1:p.Arg51Ter
XM_011521448.1:c.-163C>T XP_011519750.1:n.-163C>T
XM_017022075.2:c.-211C>T XP_016877564.1:n.-211C>T
XM_017022076.1:c.-122-3398C>T XP_016877565.1:n.-122-3398C>T
XR_001751213.2:n.487C>T
NM_018668.5:c.151C>T MANE Select NP_061138.3:p.Arg51Ter