Canonical Allele Identifier: CA2598140792

Gene: VPS33B

Linked Data

• dbSNP Id: rs2151689104
• gnomAD v3: 15-91022297-A-T
• gnomAD v4: 15-91022297-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91022297A>T , CM000677.2:g.91022297A>T	GRCh38
NC_000015.9:g.91565527A>T , CM000677.1:g.91565527A>T	GRCh37
NC_000015.8:g.89366531A>T	NCBI36
NG_012162.1:g.5307T>A , LRG_884:g.5307T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.-48T>A MANE Select	ENSP00000327650.4:n.-48T>A
ENST00000643536.1:c.-48T>A	ENSP00000494429.1:n.-48T>A
ENST00000333371.7:c.-48T>A	ENSP00000327650.3:n.-48T>A
ENST00000535906.1:c.-48T>A	ENSP00000444053.1:n.-48T>A
ENST00000556096.6:n.307T>A
ENST00000557358.1:n.300T>A
ENST00000574755.5:c.-48T>A	ENSP00000460413.1:n.-48T>A
NM_001289148.1:c.-48T>A	NP_001276077.1:n.-48T>A
NM_001289149.1:c.-259T>A	NP_001276078.1:n.-259T>A
NM_018668.4:c.-48T>A , LRG_884t1:c.-48T>A	NP_061138.3:n.-48T>A
XM_005254884.2:c.-48T>A	XP_005254941.1:n.-48T>A
XM_005254887.1:c.-178T>A	XP_005254944.1:n.-178T>A
XM_005254888.2:c.-48T>A	XP_005254945.1:n.-48T>A
XM_011521448.1:c.-361T>A	XP_011519750.1:n.-361T>A
XM_017022075.2:c.-409T>A	XP_016877564.1:n.-409T>A
XM_017022076.1:c.-266T>A	XP_016877565.1:n.-266T>A
XR_001751213.2:n.289T>A
NM_018668.5:c.-48T>A MANE Select	NP_061138.3:n.-48T>A