Canonical Allele Identifier: CA14187795
Gene: VPS33B HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91000846A>G , CM000677.2:g.91000846A>G GRCh38
NC_000015.9:g.91544076A>G , CM000677.1:g.91544076A>G GRCh37
NC_000015.8:g.89345080A>G NCBI36
NG_012162.1:g.26758T>C , LRG_884:g.26758T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.1480-255T>C MANE Select ENSP00000327650.4:n.1480-255T>C
ENST00000643536.1:c.1480-255T>C ENSP00000494429.1:n.1480-255T>C
ENST00000647331.1:c.1480-255T>C ENSP00000493953.1:n.1480-255T>C
ENST00000333371.7:c.1480-255T>C ENSP00000327650.3:n.1480-255T>C
ENST00000535906.1:c.1399-255T>C ENSP00000444053.1:n.1399-255T>C
ENST00000554660.1:n.160T>C
ENST00000557470.5:n.46-255T>C
ENST00000574755.5:c.*1175-255T>C ENSP00000460413.1:n.*1175-255T>C
NM_001289148.1:c.1399-255T>C NP_001276077.1:n.1399-255T>C
NM_001289149.1:c.1207-255T>C NP_001276078.1:n.1207-255T>C
NM_018668.4:c.1480-255T>C , LRG_884t1:c.1480-255T>C NP_061138.3:n.1480-255T>C
XM_005254884.2:c.1402-255T>C XP_005254941.1:n.1402-255T>C
XM_005254887.1:c.1207-255T>C XP_005254944.1:n.1207-255T>C
XM_011521448.1:c.1207-255T>C XP_011519750.1:n.1207-255T>C
XM_011521449.1:c.1156-255T>C XP_011519751.1:n.1156-255T>C
XM_011521449.2:c.1156-255T>C XP_011519751.1:n.1156-255T>C
XM_017022075.2:c.1135-255T>C XP_016877564.1:n.1135-255T>C
XM_017022076.1:c.1135-255T>C XP_016877565.1:n.1135-255T>C
XR_001751213.2:n.1978-255T>C
NM_018668.5:c.1480-255T>C MANE Select NP_061138.3:n.1480-255T>C