Canonical Allele Identifier: CA972735269

Gene: VPS33B

Linked Data

• dbSNP Id: rs2041129892
• gnomAD v3: 15-91022349-G-C
• gnomAD v4: 15-91022349-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91022349G>C , CM000677.2:g.91022349G>C	GRCh38
NC_000015.9:g.91565579G>C , CM000677.1:g.91565579G>C	GRCh37
NC_000015.8:g.89366583G>C	NCBI36
NG_012162.1:g.5255C>G , LRG_884:g.5255C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.-100C>G MANE Select	ENSP00000327650.4:n.-100C>G
ENST00000643536.1:c.-100C>G	ENSP00000494429.1:n.-100C>G
ENST00000333371.7:c.-100C>G	ENSP00000327650.3:n.-100C>G
ENST00000535906.1:c.-100C>G	ENSP00000444053.1:n.-100C>G
ENST00000556096.6:n.255C>G
ENST00000557358.1:n.248C>G
ENST00000574755.5:c.-100C>G	ENSP00000460413.1:n.-100C>G
NM_001289148.1:c.-100C>G	NP_001276077.1:n.-100C>G
NM_001289149.1:c.-311C>G	NP_001276078.1:n.-311C>G
NM_018668.4:c.-100C>G , LRG_884t1:c.-100C>G	NP_061138.3:n.-100C>G
XM_005254884.2:c.-100C>G	XP_005254941.1:n.-100C>G
XM_005254887.1:c.-230C>G	XP_005254944.1:n.-230C>G
XM_005254888.2:c.-100C>G	XP_005254945.1:n.-100C>G
XM_011521448.1:c.-413C>G	XP_011519750.1:n.-413C>G
XM_017022075.2:c.-461C>G	XP_016877564.1:n.-461C>G
XM_017022076.1:c.-318C>G	XP_016877565.1:n.-318C>G
XR_001751213.2:n.237C>G
NM_018668.5:c.-100C>G MANE Select	NP_061138.3:n.-100C>G