Canonical Allele Identifier: CA10617065

Gene: RAB33B RAB33B-AS1

Linked Data

• ClinVar Variation Id: 347552
• ClinVar RCV Id: RCV000315111 ; RCV001672637
• dbSNP Id: rs13126617
• gnomAD v2: 4-140375145-G-C
• gnomAD v3: 4-139453991-G-C
• gnomAD v4: 4-139453991-G-C
• MyVariant Identifiers: chr4:g.140375145G>C (hg19) ; chr4:g.139453991G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.139453991G>C , CM000666.2:g.139453991G>C	GRCh38
NC_000004.11:g.140375145G>C , CM000666.1:g.140375145G>C	GRCh37
NC_000004.10:g.140594595G>C	NCBI36
NG_051587.1:g.5760G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652268.1:c.126-186G>C (RAB33B)	ENSP00000498778.1:n.126-186G>C
ENST00000305626.5:c.-205G>C (RAB33B)	ENSP00000306496.5:n.-205G>C
ENST00000507271.1:n.467-186G>C (RAB33B)
NM_031296.1:c.-205G>C (RAB33B)	NP_112586.1:n.-205G>C
XM_011532299.1:c.126-186G>C (RAB33B)	XP_011530601.1:n.126-186G>C
XR_244727.2:n.197C>G
XR_939245.1:n.197C>G
NM_031296.2:c.-205G>C (RAB33B)	NP_112586.1:n.-205G>C
NR_159963.1:n.51C>G (RAB33B-AS1)
NR_159964.1:n.51C>G (RAB33B-AS1)