Canonical Allele Identifier: CA115760

Gene: GBE1

Linked Data

• ClinVar Variation Id: 2788
• ClinVar RCV Id: RCV000002922 ; RCV000056098 ; RCV001092351 ; RCV001851596
• dbSNP Id: rs137852891
• ExAC: 3:81584397 T / C
• gnomAD v2: 3-81584397-T-C
• gnomAD v3: 3-81535246-T-C
• gnomAD v4: 3-81535246-T-C
• MyVariant Identifiers: chr3:g.81584397T>C (hg19) ; chr3:g.81535246T>C (hg38)
• PubMed: PMID:15452297 ; PMID:20301758

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535246T>C , CM000665.2:g.81535246T>C	GRCh38
NC_000003.11:g.81584397T>C , CM000665.1:g.81584397T>C	GRCh37
NC_000003.10:g.81667087T>C	NCBI36
NG_011810.1:g.231555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1883A>G MANE Select	ENSP00000410833.2:p.His628Arg
ENST00000429644.6:c.1883A>G	ENSP00000410833.2:p.His628Arg
ENST00000484687.1:n.284A>G
ENST00000489715.1:c.1760A>G	ENSP00000419638.1:p.His587Arg
NM_000158.3:c.1883A>G	NP_000149.3:p.His628Arg
NM_000158.4:c.1883A>G MANE Select	NP_000149.4:p.His628Arg