Canonical Allele Identifier: CA393860753
Gene: VPS33B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.91014402T>G , CM000677.2:g.91014402T>G GRCh38
NC_000015.9:g.91557632T>G , CM000677.1:g.91557632T>G GRCh37
NC_000015.8:g.89358636T>G NCBI36
NG_012162.1:g.13202A>C , LRG_884:g.13202A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333371.8:c.271A>C MANE Select ENSP00000327650.4:p.Asn91His
ENST00000643536.1:c.271A>C ENSP00000494429.1:p.Asn91His
ENST00000647331.1:c.271A>C ENSP00000493953.1:p.Asn91His
ENST00000333371.7:c.271A>C ENSP00000327650.3:p.Asn91His
ENST00000535906.1:c.190A>C ENSP00000444053.1:p.Asn64His
ENST00000554264.5:n.194A>C
ENST00000556096.6:n.665A>C
ENST00000557358.1:n.475A>C
ENST00000574755.5:c.209A>C ENSP00000460413.1:p.Glu70Ala
NM_001289148.1:c.190A>C NP_001276077.1:p.Asn64His
NM_001289149.1:c.-3A>C NP_001276078.1:n.-3A>C
NM_018668.4:c.271A>C , LRG_884t1:c.271A>C NP_061138.3:p.Asn91His
XM_005254884.2:c.271A>C XP_005254941.1:p.Asn91His
XM_005254887.1:c.-3A>C XP_005254944.1:n.-3A>C
XM_005254888.2:c.271A>C XP_005254945.1:p.Asn91His
XM_011521448.1:c.-3A>C XP_011519750.1:n.-3A>C
XM_017022075.2:c.-91A>C XP_016877564.1:n.-91A>C
XM_017022076.1:c.-91A>C XP_016877565.1:n.-91A>C
XR_001751213.2:n.607A>C
NM_018668.5:c.271A>C MANE Select NP_061138.3:p.Asn91His