Canonical Allele Identifier: CA10647535
Gene: VPS33B HGNC NCBI

Linked Data

ClinVar Variation Id: 317432
ClinVar RCV Id: RCV000275841
dbSNP Id: rs886051557

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91022386T>C , CM000677.2:g.91022386T>C GRCh38
NC_000015.9:g.91565616T>C , CM000677.1:g.91565616T>C GRCh37
NC_000015.8:g.89366620T>C NCBI36
NG_012162.1:g.5218A>G , LRG_884:g.5218A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.-137A>G MANE Select ENSP00000327650.4:n.-137A>G
ENST00000643536.1:c.-137A>G ENSP00000494429.1:n.-137A>G
ENST00000333371.7:c.-137A>G ENSP00000327650.3:n.-137A>G
ENST00000535906.1:c.-137A>G ENSP00000444053.1:n.-137A>G
ENST00000556096.6:n.218A>G
ENST00000557358.1:n.211A>G
ENST00000574755.5:c.-137A>G ENSP00000460413.1:n.-137A>G
NM_001289148.1:c.-137A>G NP_001276077.1:n.-137A>G
NM_001289149.1:c.-348A>G NP_001276078.1:n.-348A>G
NM_018668.4:c.-137A>G , LRG_884t1:c.-137A>G NP_061138.3:n.-137A>G
XM_005254884.2:c.-137A>G XP_005254941.1:n.-137A>G
XM_005254887.1:c.-267A>G XP_005254944.1:n.-267A>G
XM_005254888.2:c.-137A>G XP_005254945.1:n.-137A>G
XM_011521448.1:c.-450A>G XP_011519750.1:n.-450A>G
XM_017022075.2:c.-498A>G XP_016877564.1:n.-498A>G
XM_017022076.1:c.-355A>G XP_016877565.1:n.-355A>G
XR_001751213.2:n.200A>G
NM_018668.5:c.-137A>G MANE Select NP_061138.3:n.-137A>G