Canonical Allele Identifier: CA393863781
Community Standard Title: NM_018668.5(VPS33B):c.67C>T (p.Arg23Ter)
Gene: VPS33B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91022183G>A , CM000677.2:g.91022183G>A GRCh38
NC_000015.9:g.91565413G>A , CM000677.1:g.91565413G>A GRCh37
NC_000015.8:g.89366417G>A NCBI36
NG_012162.1:g.5421C>T , LRG_884:g.5421C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018668.5:c.67C>T MANE Select NP_061138.3:p.Arg23Ter
ENST00000333371.8:c.67C>T MANE Select ENSP00000327650.4:p.Arg23Ter
NM_001289148.1:c.67C>T NP_001276077.1:p.Arg23Ter
NM_001289149.1:c.-145C>T NP_001276078.1:n.-145C>T
NM_018668.4:c.67C>T , LRG_884t1:c.67C>T NP_061138.3:p.Arg23Ter
ENST00000333371.7:c.67C>T ENSP00000327650.3:p.Arg23Ter
ENST00000535906.1:c.67C>T ENSP00000444053.1:p.Arg23Ter
ENST00000556096.6:n.421C>T
ENST00000557358.1:n.414C>T
ENST00000574755.5:c.67C>T ENSP00000460413.1:p.Arg23Ter
ENST00000643536.1:c.67C>T ENSP00000494429.1:p.Arg23Ter
ENST00000647331.1:c.67C>T ENSP00000493953.1:p.Arg23Ter
XM_005254884.2:c.67C>T XP_005254941.1:p.Arg23Ter
XM_005254887.1:c.-64C>T XP_005254944.1:n.-64C>T
XM_005254888.2:c.67C>T XP_005254945.1:p.Arg23Ter
XM_011521448.1:c.-247C>T XP_011519750.1:n.-247C>T
XM_017022075.2:c.-295C>T XP_016877564.1:n.-295C>T
XM_017022076.1:c.-152C>T XP_016877565.1:n.-152C>T
XR_001751213.2:n.403C>T