Canonical Allele Identifier: CA2500107

Gene: GBE1

Linked Data

• ClinVar Variation Id: 515221
• ClinVar RCV Id: RCV000611635 ; RCV000892880 ; RCV001148054 ; RCV001148055 ; RCV003431149
• dbSNP Id: rs370326965
• ExAC: 3:81810624 C / T
• gnomAD v2: 3-81810624-C-T
• gnomAD v3: 3-81761473-C-T
• gnomAD v4: 3-81761473-C-T
• MyVariant Identifiers: chr3:g.81810624C>T (hg19) ; chr3:g.81761473C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81761473C>T , CM000665.2:g.81761473C>T	GRCh38
NC_000003.11:g.81810624C>T , CM000665.1:g.81810624C>T	GRCh37
NC_000003.10:g.81893314C>T	NCBI36
NG_011810.1:g.5328G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.45G>A MANE Select	ENSP00000410833.2:p.Glu15=
ENST00000429644.6:c.45G>A	ENSP00000410833.2:p.Glu15=
NM_000158.3:c.45G>A	NP_000149.3:p.Glu15=
NM_000158.4:c.45G>A MANE Select	NP_000149.4:p.Glu15=