Canonical Allele Identifier: CA393886508
Gene: VPS33B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91002098T>A , CM000677.2:g.91002098T>A GRCh38
NC_000015.9:g.91545328T>A , CM000677.1:g.91545328T>A GRCh37
NC_000015.8:g.89346332T>A NCBI36
NG_012162.1:g.25506A>T , LRG_884:g.25506A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.1357A>T MANE Select ENSP00000327650.4:p.Thr453Ser
ENST00000643536.1:c.1357A>T ENSP00000494429.1:p.Thr453Ser
ENST00000647331.1:c.1357A>T ENSP00000493953.1:p.Thr453Ser
ENST00000333371.7:c.1357A>T ENSP00000327650.3:p.Thr453Ser
ENST00000535906.1:c.1276A>T ENSP00000444053.1:p.Thr426Ser
ENST00000574755.5:c.*1052A>T ENSP00000460413.1:n.*1052A>T
NM_001289148.1:c.1276A>T NP_001276077.1:p.Thr426Ser
NM_001289149.1:c.1084A>T NP_001276078.1:p.Thr362Ser
NM_018668.4:c.1357A>T , LRG_884t1:c.1357A>T NP_061138.3:p.Thr453Ser
XM_005254884.2:c.1279A>T XP_005254941.1:p.Thr427Ser
XM_005254887.1:c.1084A>T XP_005254944.1:p.Thr362Ser
XM_011521448.1:c.1084A>T XP_011519750.1:p.Thr362Ser
XM_011521449.1:c.1033A>T XP_011519751.1:p.Thr345Ser
XM_011521449.2:c.1033A>T XP_011519751.1:p.Thr345Ser
XM_017022075.2:c.1012A>T XP_016877564.1:p.Thr338Ser
XM_017022076.1:c.1012A>T XP_016877565.1:p.Thr338Ser
XR_001751213.2:n.1855A>T
NM_018668.5:c.1357A>T MANE Select NP_061138.3:p.Thr453Ser