Canonical Allele Identifier: CA115747

Gene: GBE1

Linked Data

• ClinVar Variation Id: 2779
• ClinVar RCV Id: RCV000002910 ; RCV000020161 ; RCV001246690 ; RCV000210646
• dbSNP Id: rs80338672
• ExAC: 3:81627151 G / A
• gnomAD v2: 3-81627151-G-A
• gnomAD v3: 3-81578000-G-A
• gnomAD v4: 3-81578000-G-A
• MyVariant Identifiers: chr3:g.81627151G>A (hg19) ; chr3:g.81578000G>A (hg38)
• PubMed: PMID:8613547 ; PMID:10762170 ; PMID:20301758

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81578000G>A , CM000665.2:g.81578000G>A	GRCh38
NC_000003.11:g.81627151G>A , CM000665.1:g.81627151G>A	GRCh37
NC_000003.10:g.81709841G>A	NCBI36
NG_011810.1:g.188801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1543C>T MANE Select	ENSP00000410833.2:p.Arg515Cys
ENST00000429644.6:c.1543C>T	ENSP00000410833.2:p.Arg515Cys
ENST00000489715.1:c.1420C>T	ENSP00000419638.1:p.Arg474Cys
NM_000158.3:c.1543C>T	NP_000149.3:p.Arg515Cys
NM_000158.4:c.1543C>T MANE Select	NP_000149.4:p.Arg515Cys