Canonical Allele Identifier: CA143715
Community Standard Title: NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln)
Gene: RAB33B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139454331A>C , CM000666.2:g.139454331A>C GRCh38
NC_000004.11:g.140375485A>C , CM000666.1:g.140375485A>C GRCh37
NC_000004.10:g.140594935A>C NCBI36
NG_051587.1:g.6100A>C

Transcript Alleles

HGVS Amino-acid Change
NM_031296.3:c.136A>C MANE Select NP_112586.1:p.Lys46Gln
ENST00000305626.6:c.136A>C MANE Select ENSP00000306496.5:p.Lys46Gln
NM_031296.1:c.136A>C NP_112586.1:p.Lys46Gln
NM_031296.2:c.136A>C NP_112586.1:p.Lys46Gln
ENST00000305626.5:c.136A>C ENSP00000306496.5:p.Lys46Gln
ENST00000652268.1:c.280A>C ENSP00000498778.1:p.Lys94Gln
XM_011532299.1:c.280A>C XP_011530601.1:p.Lys94Gln
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