Canonical Allele Identifier: CA2630423693
Gene: VPS33B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91022396C>A , CM000677.2:g.91022396C>A GRCh38
NC_000015.9:g.91565626C>A , CM000677.1:g.91565626C>A GRCh37
NC_000015.8:g.89366630C>A NCBI36
NG_012162.1:g.5208G>T , LRG_884:g.5208G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.-147G>T MANE Select ENSP00000327650.4:n.-147G>T
ENST00000643536.1:c.-147G>T ENSP00000494429.1:n.-147G>T
ENST00000333371.7:c.-147G>T ENSP00000327650.3:n.-147G>T
ENST00000535906.1:c.-147G>T ENSP00000444053.1:n.-147G>T
ENST00000556096.6:n.208G>T
ENST00000557358.1:n.201G>T
ENST00000574755.5:c.-147G>T ENSP00000460413.1:n.-147G>T
NM_001289148.1:c.-147G>T NP_001276077.1:n.-147G>T
NM_001289149.1:c.-358G>T NP_001276078.1:n.-358G>T
NM_018668.4:c.-147G>T , LRG_884t1:c.-147G>T NP_061138.3:n.-147G>T
XM_005254884.2:c.-147G>T XP_005254941.1:n.-147G>T
XM_005254887.1:c.-277G>T XP_005254944.1:n.-277G>T
XM_005254888.2:c.-147G>T XP_005254945.1:n.-147G>T
XM_011521448.1:c.-460G>T XP_011519750.1:n.-460G>T
XM_017022075.2:c.-508G>T XP_016877564.1:n.-508G>T
XM_017022076.1:c.-365G>T XP_016877565.1:n.-365G>T
XR_001751213.2:n.190G>T
NM_018668.5:c.-147G>T MANE Select NP_061138.3:n.-147G>T