Canonical Allele Identifier: CA7745140

Gene: VPS33B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91014410C>T , CM000677.2:g.91014410C>T	GRCh38
NC_000015.9:g.91557640C>T , CM000677.1:g.91557640C>T	GRCh37
NC_000015.8:g.89358644C>T	NCBI36
NG_012162.1:g.13194G>A , LRG_884:g.13194G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018668.5:c.263G>A MANE Select	NP_061138.3:p.Arg88His
ENST00000333371.8:c.263G>A MANE Select	ENSP00000327650.4:p.Arg88His
NM_001289148.1:c.182G>A	NP_001276077.1:p.Arg61His
NM_001289149.1:c.-11G>A	NP_001276078.1:n.-11G>A
NM_018668.4:c.263G>A , LRG_884t1:c.263G>A	NP_061138.3:p.Arg88His
ENST00000333371.7:c.263G>A	ENSP00000327650.3:p.Arg88His
ENST00000535906.1:c.182G>A	ENSP00000444053.1:p.Arg61His
ENST00000554264.5:n.186G>A
ENST00000556096.6:n.657G>A
ENST00000557358.1:n.467G>A
ENST00000574755.5:c.201G>A	ENSP00000460413.1:p.Pro67=
ENST00000643536.1:c.263G>A	ENSP00000494429.1:p.Arg88His
ENST00000647331.1:c.263G>A	ENSP00000493953.1:p.Arg88His
XM_005254884.2:c.263G>A	XP_005254941.1:p.Arg88His
XM_005254887.1:c.-11G>A	XP_005254944.1:n.-11G>A
XM_005254888.2:c.263G>A	XP_005254945.1:p.Arg88His
XM_011521448.1:c.-11G>A	XP_011519750.1:n.-11G>A
XM_017022075.2:c.-99G>A	XP_016877564.1:n.-99G>A
XM_017022076.1:c.-99G>A	XP_016877565.1:n.-99G>A
XR_001751213.2:n.599G>A