Canonical Allele Identifier: CA115755

Gene: GBE1

Linked Data

• ClinVar Variation Id: 2784
• ClinVar RCV Id: RCV000002918 ; RCV000056092 ; RCV001851595
• dbSNP Id: rs397515343
• gnomAD v4: 3-81761374-C-T
• MyVariant Identifiers: chr3:g.81810525C>T (hg19) ; chr3:g.81761374C>T (hg38)
• PubMed: PMID:10384399 ; PMID:15452297 ; PMID:20301758

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81761374C>T , CM000665.2:g.81761374C>T	GRCh38
NC_000003.11:g.81810525C>T , CM000665.1:g.81810525C>T	GRCh37
NC_000003.10:g.81893215C>T	NCBI36
NG_011810.1:g.5427G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.143+1G>A MANE Select	ENSP00000410833.2:n.143+1G>A
ENST00000429644.6:c.143+1G>A	ENSP00000410833.2:n.143+1G>A
NM_000158.3:c.143+1G>A	NP_000149.3:n.143+1G>A
NM_000158.4:c.143+1G>A MANE Select	NP_000149.4:n.143+1G>A