Canonical Allele Identifier: CA10617074

Gene: RAB33B

Linked Data

• ClinVar Variation Id: 347558
• ClinVar RCV Id: RCV000317326 ; RCV001636969
• dbSNP Id: rs13128486
• gnomAD v2: 4-140375296-C-G
• gnomAD v3: 4-139454142-C-G
• gnomAD v4: 4-139454142-C-G
• MyVariant Identifiers: chr4:g.140375296C>G (hg19) ; chr4:g.139454142C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.139454142C>G , CM000666.2:g.139454142C>G	GRCh38
NC_000004.11:g.140375296C>G , CM000666.1:g.140375296C>G	GRCh37
NC_000004.10:g.140594746C>G	NCBI36
NG_051587.1:g.5911C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305626.6:c.-54C>G MANE Select	ENSP00000306496.5:n.-54C>G
ENST00000652268.1:c.126-35C>G	ENSP00000498778.1:n.126-35C>G
ENST00000305626.5:c.-54C>G	ENSP00000306496.5:n.-54C>G
ENST00000507271.1:n.467-35C>G
NM_031296.1:c.-54C>G	NP_112586.1:n.-54C>G
XM_011532299.1:c.126-35C>G	XP_011530601.1:n.126-35C>G
XR_244727.2:n.46G>C
XR_939245.1:n.46G>C
NM_031296.2:c.-54C>G	NP_112586.1:n.-54C>G
NM_031296.3:c.-54C>G MANE Select	NP_112586.1:n.-54C>G