Canonical Allele Identifier: CA7744751
Community Standard Title: NM_018668.5(VPS33B):c.1171-6A>G
Gene: VPS33B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91004937T>C , CM000677.2:g.91004937T>C GRCh38
NC_000015.9:g.91548167T>C , CM000677.1:g.91548167T>C GRCh37
NC_000015.8:g.89349171T>C NCBI36
NG_012162.1:g.22667A>G , LRG_884:g.22667A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018668.5:c.1171-6A>G MANE Select NP_061138.3:n.1171-6A>G
ENST00000333371.8:c.1171-6A>G MANE Select ENSP00000327650.4:n.1171-6A>G
NM_001289148.1:c.1090-6A>G NP_001276077.1:n.1090-6A>G
NM_001289149.1:c.898-6A>G NP_001276078.1:n.898-6A>G
NM_018668.4:c.1171-6A>G , LRG_884t1:c.1171-6A>G NP_061138.3:n.1171-6A>G
ENST00000333371.7:c.1171-6A>G ENSP00000327650.3:n.1171-6A>G
ENST00000535906.1:c.1090-6A>G ENSP00000444053.1:n.1090-6A>G
ENST00000574755.5:c.*866-6A>G ENSP00000460413.1:n.*866-6A>G
ENST00000643536.1:c.1171-6A>G ENSP00000494429.1:n.1171-6A>G
ENST00000647331.1:c.1171-6A>G ENSP00000493953.1:n.1171-6A>G
XM_005254884.2:c.1093-6A>G XP_005254941.1:n.1093-6A>G
XM_005254887.1:c.898-6A>G XP_005254944.1:n.898-6A>G
XM_011521448.1:c.898-6A>G XP_011519750.1:n.898-6A>G
XM_011521449.1:c.847-6A>G XP_011519751.1:n.847-6A>G
XM_011521449.2:c.847-6A>G XP_011519751.1:n.847-6A>G
XM_017022075.2:c.826-6A>G XP_016877564.1:n.826-6A>G
XM_017022076.1:c.826-6A>G XP_016877565.1:n.826-6A>G
XR_001751213.2:n.1669-6A>G