Canonical Allele Identifier: CA10617959
Gene: RAB33B HGNC NCBI

Linked Data

ClinVar Variation Id: 347571
ClinVar RCV Id: RCV001718742
dbSNP Id: rs78192594
gnomAD v2: 4-140394534-A-G
gnomAD v3: 4-139473380-A-G
gnomAD v4: 4-139473380-A-G
MyVariant Identifiers: chr4:g.140394534A>G (hg19) chr4:g.139473380A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.139473380A>G , CM000666.2:g.139473380A>G GRCh38
NC_000004.11:g.140394534A>G , CM000666.1:g.140394534A>G GRCh37
NC_000004.10:g.140613984A>G NCBI36
NG_051587.1:g.25149A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305626.6:c.*254A>G MANE Select ENSP00000306496.5:n.*254A>G
ENST00000652268.1:c.*254A>G ENSP00000498778.1:n.*254A>G
ENST00000305626.5:c.*254A>G ENSP00000306496.5:n.*254A>G
NM_031296.1:c.*254A>G NP_112586.1:n.*254A>G
XM_011532299.1:c.*254A>G XP_011530601.1:n.*254A>G
NM_031296.2:c.*254A>G NP_112586.1:n.*254A>G
NM_031296.3:c.*254A>G MANE Select NP_112586.1:n.*254A>G
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