Canonical Allele Identifier: CA10620067

Gene: RAB33B RAB33B-AS1

Linked Data

• ClinVar Variation Id: 347550
• ClinVar RCV Id: RCV000345423
• dbSNP Id: rs886059073
• gnomAD v2: 4-140375008-T-C
• gnomAD v3: 4-139453854-T-C
• gnomAD v4: 4-139453854-T-C
• MyVariant Identifiers: chr4:g.140375008T>C (hg19) ; chr4:g.139453854T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.139453854T>C , CM000666.2:g.139453854T>C	GRCh38
NC_000004.11:g.140375008T>C , CM000666.1:g.140375008T>C	GRCh37
NC_000004.10:g.140594458T>C	NCBI36
NG_051587.1:g.5623T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652268.1:c.125+157T>C (RAB33B)	ENSP00000498778.1:n.125+157T>C
ENST00000305626.5:c.-342T>C (RAB33B)	ENSP00000306496.5:n.-342T>C
ENST00000507271.1:n.466+157T>C (RAB33B)
NM_031296.1:c.-342T>C (RAB33B)	NP_112586.1:n.-342T>C
XM_011532299.1:c.125+157T>C (RAB33B)	XP_011530601.1:n.125+157T>C
XR_244727.2:n.334A>G
XR_939244.1:n.81A>G
XR_939245.1:n.334A>G
NM_031296.2:c.-342T>C (RAB33B)	NP_112586.1:n.-342T>C
NR_159963.1:n.188A>G (RAB33B-AS1)
NR_159964.1:n.188A>G (RAB33B-AS1)