Canonical Allele Identifier: CA393886500
Gene: VPS33B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91002094G>T , CM000677.2:g.91002094G>T GRCh38
NC_000015.9:g.91545324G>T , CM000677.1:g.91545324G>T GRCh37
NC_000015.8:g.89346328G>T NCBI36
NG_012162.1:g.25510C>A , LRG_884:g.25510C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.1361C>A MANE Select ENSP00000327650.4:p.Ala454Asp
ENST00000643536.1:c.1361C>A ENSP00000494429.1:p.Ala454Asp
ENST00000647331.1:c.1361C>A ENSP00000493953.1:p.Ala454Asp
ENST00000333371.7:c.1361C>A ENSP00000327650.3:p.Ala454Asp
ENST00000535906.1:c.1280C>A ENSP00000444053.1:p.Ala427Asp
ENST00000574755.5:c.*1056C>A ENSP00000460413.1:n.*1056C>A
NM_001289148.1:c.1280C>A NP_001276077.1:p.Ala427Asp
NM_001289149.1:c.1088C>A NP_001276078.1:p.Ala363Asp
NM_018668.4:c.1361C>A , LRG_884t1:c.1361C>A NP_061138.3:p.Ala454Asp
XM_005254884.2:c.1283C>A XP_005254941.1:p.Ala428Asp
XM_005254887.1:c.1088C>A XP_005254944.1:p.Ala363Asp
XM_011521448.1:c.1088C>A XP_011519750.1:p.Ala363Asp
XM_011521449.1:c.1037C>A XP_011519751.1:p.Ala346Asp
XM_011521449.2:c.1037C>A XP_011519751.1:p.Ala346Asp
XM_017022075.2:c.1016C>A XP_016877564.1:p.Ala339Asp
XM_017022076.1:c.1016C>A XP_016877565.1:p.Ala339Asp
XR_001751213.2:n.1859C>A
NM_018668.5:c.1361C>A MANE Select NP_061138.3:p.Ala454Asp