Canonical Allele Identifier: CA2499528

Gene: GBE1

Linked Data

• ClinVar Variation Id: 346785
• ClinVar RCV Id: RCV000303766 ; RCV001275347 ; RCV000808547
• dbSNP Id: rs766935302
• ExAC: 3:81584371 G / A
• gnomAD v2: 3-81584371-G-A
• gnomAD v3: 3-81535220-G-A
• gnomAD v4: 3-81535220-G-A
• COSMIC: COSM5865344 ; COSM5865345
• MyVariant Identifiers: chr3:g.81584371G>A (hg19) ; chr3:g.81535220G>A (hg38)
• PubMed: PMID:15452297 ; PMID:15520786 ; PMID:17915577 ; PMID:18289670 ; PMID:19438752 ; PMID:20058079 ; PMID:20833045 ; PMID:22305237

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535220G>A , CM000665.2:g.81535220G>A	GRCh38
NC_000003.11:g.81584371G>A , CM000665.1:g.81584371G>A	GRCh37
NC_000003.10:g.81667061G>A	NCBI36
NG_011810.1:g.231581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1909C>T MANE Select	ENSP00000410833.2:p.Arg637Ter
ENST00000429644.6:c.1909C>T	ENSP00000410833.2:p.Arg637Ter
ENST00000484687.1:n.310C>T
ENST00000489715.1:c.1786C>T	ENSP00000419638.1:p.Arg596Ter
NM_000158.3:c.1909C>T	NP_000149.3:p.Arg637Ter
NM_000158.4:c.1909C>T MANE Select	NP_000149.4:p.Arg637Ter