Canonical Allele Identifier: CA3084019

Gene: RAB33B

Linked Data

• ClinVar Variation Id: 347566
• ClinVar RCV Id: RCV000288744 ; RCV001850842
• dbSNP Id: rs769999843
• ExAC: 4:140394022 T / C
• gnomAD v2: 4-140394022-T-C
• gnomAD v3: 4-139472868-T-C
• gnomAD v4: 4-139472868-T-C
• MyVariant Identifiers: chr4:g.140394022T>C (hg19) ; chr4:g.139472868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.139472868T>C , CM000666.2:g.139472868T>C	GRCh38
NC_000004.11:g.140394022T>C , CM000666.1:g.140394022T>C	GRCh37
NC_000004.10:g.140613472T>C	NCBI36
NG_051587.1:g.24637T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305626.6:c.432T>C MANE Select	ENSP00000306496.5:p.Ile144=
ENST00000652268.1:c.576T>C	ENSP00000498778.1:p.Ile192=
ENST00000305626.5:c.432T>C	ENSP00000306496.5:p.Ile144=
NM_031296.1:c.432T>C	NP_112586.1:p.Ile144=
XM_011532299.1:c.576T>C	XP_011530601.1:p.Ile192=
NM_031296.2:c.432T>C	NP_112586.1:p.Ile144=
NM_031296.3:c.432T>C MANE Select	NP_112586.1:p.Ile144=