Canonical Allele Identifier: CA393864090
Gene: VPS33B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91022245G>C , CM000677.2:g.91022245G>C GRCh38
NC_000015.9:g.91565475G>C , CM000677.1:g.91565475G>C GRCh37
NC_000015.8:g.89366479G>C NCBI36
NG_012162.1:g.5359C>G , LRG_884:g.5359C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.5C>G MANE Select ENSP00000327650.4:p.Ala2Gly
ENST00000643536.1:c.5C>G ENSP00000494429.1:p.Ala2Gly
ENST00000647331.1:c.5C>G ENSP00000493953.1:p.Ala2Gly
ENST00000333371.7:c.5C>G ENSP00000327650.3:p.Ala2Gly
ENST00000535906.1:c.5C>G ENSP00000444053.1:p.Ala2Gly
ENST00000556096.6:n.359C>G
ENST00000557358.1:n.352C>G
ENST00000574755.5:c.5C>G ENSP00000460413.1:p.Ala2Gly
NM_001289148.1:c.5C>G NP_001276077.1:p.Ala2Gly
NM_001289149.1:c.-207C>G NP_001276078.1:n.-207C>G
NM_018668.4:c.5C>G , LRG_884t1:c.5C>G NP_061138.3:p.Ala2Gly
XM_005254884.2:c.5C>G XP_005254941.1:p.Ala2Gly
XM_005254887.1:c.-126C>G XP_005254944.1:n.-126C>G
XM_005254888.2:c.5C>G XP_005254945.1:p.Ala2Gly
XM_011521448.1:c.-309C>G XP_011519750.1:n.-309C>G
XM_017022075.2:c.-357C>G XP_016877564.1:n.-357C>G
XM_017022076.1:c.-214C>G XP_016877565.1:n.-214C>G
XR_001751213.2:n.341C>G
NM_018668.5:c.5C>G MANE Select NP_061138.3:p.Ala2Gly