Canonical Allele Identifier: CA14180944
Community Standard Title: NM_018668.5(VPS33B):c.1775-53G>A
Gene: VPS33B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90999107C>T , CM000677.2:g.90999107C>T GRCh38
NC_000015.9:g.91542337C>T , CM000677.1:g.91542337C>T GRCh37
NC_000015.8:g.89343341C>T NCBI36
NG_012162.1:g.28497G>A , LRG_884:g.28497G>A
NG_050647.1:g.545G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018668.5:c.1775-53G>A MANE Select NP_061138.3:n.1775-53G>A
ENST00000333371.8:c.1775-53G>A MANE Select ENSP00000327650.4:n.1775-53G>A
NM_001289148.1:c.1694-53G>A NP_001276077.1:n.1694-53G>A
NM_001289149.1:c.1502-53G>A NP_001276078.1:n.1502-53G>A
NM_018668.4:c.1775-53G>A , LRG_884t1:c.1775-53G>A NP_061138.3:n.1775-53G>A
ENST00000333371.7:c.1775-53G>A ENSP00000327650.3:n.1775-53G>A
ENST00000535906.1:c.1694-53G>A ENSP00000444053.1:n.1694-53G>A
ENST00000557470.5:n.148-53G>A
ENST00000574755.5:c.*1470-53G>A ENSP00000460413.1:n.*1470-53G>A
ENST00000643536.1:c.1774+570G>A ENSP00000494429.1:n.1774+570G>A
ENST00000647331.1:c.1774+570G>A ENSP00000493953.1:n.1774+570G>A
XM_005254884.2:c.1697-53G>A XP_005254941.1:n.1697-53G>A
XM_005254887.1:c.1502-53G>A XP_005254944.1:n.1502-53G>A
XM_011521448.1:c.1502-53G>A XP_011519750.1:n.1502-53G>A
XM_011521449.1:c.1451-53G>A XP_011519751.1:n.1451-53G>A
XM_011521449.2:c.1451-53G>A XP_011519751.1:n.1451-53G>A
XM_017022075.2:c.1430-53G>A XP_016877564.1:n.1430-53G>A
XM_017022076.1:c.1430-53G>A XP_016877565.1:n.1430-53G>A
XR_001751213.2:n.2273-53G>A