Canonical Allele Identifier: CA10620077

Gene: RAB33B RAB33B-AS1

Linked Data

• ClinVar Variation Id: 347551
• ClinVar RCV Id: RCV000396529
• dbSNP Id: rs886059074
• gnomAD v2: 4-140375095-C-T
• gnomAD v3: 4-139453941-C-T
• gnomAD v4: 4-139453941-C-T
• MyVariant Identifiers: chr4:g.140375095C>T (hg19) ; chr4:g.139453941C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.139453941C>T , CM000666.2:g.139453941C>T	GRCh38
NC_000004.11:g.140375095C>T , CM000666.1:g.140375095C>T	GRCh37
NC_000004.10:g.140594545C>T	NCBI36
NG_051587.1:g.5710C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652268.1:c.126-236C>T (RAB33B)	ENSP00000498778.1:n.126-236C>T
ENST00000305626.5:c.-255C>T (RAB33B)	ENSP00000306496.5:n.-255C>T
ENST00000507271.1:n.467-236C>T (RAB33B)
NM_031296.1:c.-255C>T (RAB33B)	NP_112586.1:n.-255C>T
XM_011532299.1:c.126-236C>T (RAB33B)	XP_011530601.1:n.126-236C>T
XR_244727.2:n.247G>A
XR_939245.1:n.247G>A
NM_031296.2:c.-255C>T (RAB33B)	NP_112586.1:n.-255C>T
NR_159963.1:n.101G>A (RAB33B-AS1)
NR_159964.1:n.101G>A (RAB33B-AS1)