Canonical Allele Identifier: CA358272776
Community Standard Title: NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser)
Gene: RAB33B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139472801T>C , CM000666.2:g.139472801T>C GRCh38
NC_000004.11:g.140393955T>C , CM000666.1:g.140393955T>C GRCh37
NC_000004.10:g.140613405T>C NCBI36
NG_051587.1:g.24570T>C

Transcript Alleles

HGVS Amino-acid Change
NM_031296.3:c.365T>C MANE Select NP_112586.1:p.Phe122Ser
ENST00000305626.6:c.365T>C MANE Select ENSP00000306496.5:p.Phe122Ser
NM_031296.1:c.365T>C NP_112586.1:p.Phe122Ser
NM_031296.2:c.365T>C NP_112586.1:p.Phe122Ser
ENST00000305626.5:c.365T>C ENSP00000306496.5:p.Phe122Ser
ENST00000652268.1:c.509T>C ENSP00000498778.1:p.Phe170Ser
XM_011532299.1:c.509T>C XP_011530601.1:p.Phe170Ser
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