Canonical Allele Identifier: CA2195398250
Gene: VPS33B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91000442A= , CM000677.2:g.91000442A= GRCh38
NC_000015.9:g.91543672A= , CM000677.1:g.91543672A= GRCh37
NC_000015.8:g.89344676A= NCBI36
NG_012162.1:g.27162T= , LRG_884:g.27162T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.1581+48T= MANE Select ENSP00000327650.4:n.1581+48T=
ENST00000643536.1:c.1581+48T= ENSP00000494429.1:n.1581+48T=
ENST00000647331.1:c.1581+48T= ENSP00000493953.1:n.1581+48T=
ENST00000333371.7:c.1581+48T= ENSP00000327650.3:n.1581+48T=
ENST00000535906.1:c.1500+48T= ENSP00000444053.1:n.1500+48T=
ENST00000554660.1:n.516+48T=
ENST00000557470.5:n.147+48T=
ENST00000574755.5:c.*1276+48T= ENSP00000460413.1:n.*1276+48T=
NM_001289148.1:c.1500+48T= NP_001276077.1:n.1500+48T=
NM_001289149.1:c.1308+48T= NP_001276078.1:n.1308+48T=
NM_018668.4:c.1581+48T= , LRG_884t1:c.1581+48T= NP_061138.3:n.1581+48T=
XM_005254884.2:c.1503+48T= XP_005254941.1:n.1503+48T=
XM_005254887.1:c.1308+48T= XP_005254944.1:n.1308+48T=
XM_011521448.1:c.1308+48T= XP_011519750.1:n.1308+48T=
XM_011521449.1:c.1257+48T= XP_011519751.1:n.1257+48T=
XM_011521449.2:c.1257+48T= XP_011519751.1:n.1257+48T=
XM_017022075.2:c.1236+48T= XP_016877564.1:n.1236+48T=
XM_017022076.1:c.1236+48T= XP_016877565.1:n.1236+48T=
XR_001751213.2:n.2079+48T=
NM_018668.5:c.1581+48T= MANE Select NP_061138.3:n.1581+48T=