Canonical Allele Identifier: CA358271786
Community Standard Title: NM_031296.3(RAB33B):c.144C>A (p.Cys48Ter)
Gene: RAB33B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139454339C>A , CM000666.2:g.139454339C>A GRCh38
NC_000004.11:g.140375493C>A , CM000666.1:g.140375493C>A GRCh37
NC_000004.10:g.140594943C>A NCBI36
NG_051587.1:g.6108C>A

Transcript Alleles

HGVS Amino-acid Change
NM_031296.3:c.144C>A MANE Select NP_112586.1:p.Cys48Ter
ENST00000305626.6:c.144C>A MANE Select ENSP00000306496.5:p.Cys48Ter
NM_031296.1:c.144C>A NP_112586.1:p.Cys48Ter
NM_031296.2:c.144C>A NP_112586.1:p.Cys48Ter
ENST00000305626.5:c.144C>A ENSP00000306496.5:p.Cys48Ter
ENST00000652268.1:c.288C>A ENSP00000498778.1:p.Cys96Ter
XM_011532299.1:c.288C>A XP_011530601.1:p.Cys96Ter
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