Canonical Allele Identifier: CA393860725
Gene: VPS33B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91014389A>T , CM000677.2:g.91014389A>T GRCh38
NC_000015.9:g.91557619A>T , CM000677.1:g.91557619A>T GRCh37
NC_000015.8:g.89358623A>T NCBI36
NG_012162.1:g.13215T>A , LRG_884:g.13215T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.284T>A MANE Select ENSP00000327650.4:p.Ile95Asn
ENST00000643536.1:c.284T>A ENSP00000494429.1:p.Ile95Asn
ENST00000647331.1:c.284T>A ENSP00000493953.1:p.Ile95Asn
ENST00000333371.7:c.284T>A ENSP00000327650.3:p.Ile95Asn
ENST00000535906.1:c.203T>A ENSP00000444053.1:p.Ile68Asn
ENST00000554264.5:n.207T>A
ENST00000556096.6:n.678T>A
ENST00000557358.1:n.488T>A
ENST00000574755.5:c.222T>A ENSP00000460413.1:p.His74Gln
NM_001289148.1:c.203T>A NP_001276077.1:p.Ile68Asn
NM_001289149.1:c.11T>A NP_001276078.1:p.Ile4Asn
NM_018668.4:c.284T>A , LRG_884t1:c.284T>A NP_061138.3:p.Ile95Asn
XM_005254884.2:c.284T>A XP_005254941.1:p.Ile95Asn
XM_005254887.1:c.11T>A XP_005254944.1:p.Ile4Asn
XM_005254888.2:c.284T>A XP_005254945.1:p.Ile95Asn
XM_011521448.1:c.11T>A XP_011519750.1:p.Ile4Asn
XM_017022075.2:c.-78T>A XP_016877564.1:n.-78T>A
XM_017022076.1:c.-78T>A XP_016877565.1:n.-78T>A
XR_001751213.2:n.620T>A
NM_018668.5:c.284T>A MANE Select NP_061138.3:p.Ile95Asn