Canonical Allele Identifier: CA115751

Gene: GBE1

Linked Data

• ClinVar Variation Id: 2781
• ClinVar RCV Id: RCV000002914 ; RCV000002913 ; RCV000056093 ; RCV000490013 ; RCV001052971 ; RCV002490300
• dbSNP Id: rs137852888
• ExAC: 3:81627124 G / A
• gnomAD v2: 3-81627124-G-A
• gnomAD v3: 3-81577973-G-A
• gnomAD v4: 3-81577973-G-A
• COSMIC: COSM3427915 ; COSM3427916
• MyVariant Identifiers: chr3:g.81627124G>A (hg19) ; chr3:g.81577973G>A (hg38)
• PubMed: PMID:8613547 ; PMID:15452297 ; PMID:20301758

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81577973G>A , CM000665.2:g.81577973G>A	GRCh38
NC_000003.11:g.81627124G>A , CM000665.1:g.81627124G>A	GRCh37
NC_000003.10:g.81709814G>A	NCBI36
NG_011810.1:g.188828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1570C>T MANE Select	ENSP00000410833.2:p.Arg524Ter
ENST00000429644.6:c.1570C>T	ENSP00000410833.2:p.Arg524Ter
ENST00000489715.1:c.1447C>T	ENSP00000419638.1:p.Arg483Ter
NM_000158.3:c.1570C>T	NP_000149.3:p.Arg524Ter
NM_000158.4:c.1570C>T MANE Select	NP_000149.4:p.Arg524Ter