Canonical Allele Identifier: CA115767

Gene: GBE1

Linked Data

• ClinVar Variation Id: 2793
• ClinVar RCV Id: RCV000002927 ; RCV000056096
• dbSNP Id: rs137852894
• ExAC: 3:81586222 C / T
• gnomAD v2: 3-81586222-C-T
• gnomAD v4: 3-81537071-C-T
• MyVariant Identifiers: chr3:g.81586222C>T (hg19) ; chr3:g.81537071C>T (hg38)
• PubMed: PMID:17662246 ; PMID:20301758

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81537071C>T , CM000665.2:g.81537071C>T	GRCh38
NC_000003.11:g.81586222C>T , CM000665.1:g.81586222C>T	GRCh37
NC_000003.10:g.81668912C>T	NCBI36
NG_011810.1:g.229730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1643G>A MANE Select	ENSP00000410833.2:p.Trp548Ter
ENST00000429644.6:c.1643G>A	ENSP00000410833.2:p.Trp548Ter
ENST00000484687.1:n.44G>A
ENST00000489715.1:c.1520G>A	ENSP00000419638.1:p.Trp507Ter
NM_000158.3:c.1643G>A	NP_000149.3:p.Trp548Ter
NM_000158.4:c.1643G>A MANE Select	NP_000149.4:p.Trp548Ter