Canonical Allele Identifier: CA115749

Gene: GBE1

Linked Data

• ClinVar Variation Id: 2780
• ClinVar RCV Id: RCV000002912 ; RCV000056143 ; RCV000433912 ; RCV001851594
• dbSNP Id: rs137852887
• gnomAD v2: 3-81695554-A-T
• gnomAD v3: 3-81646403-A-T
• gnomAD v4: 3-81646403-A-T
• MyVariant Identifiers: chr3:g.81695554A>T (hg19) ; chr3:g.81646403A>T (hg38)
• PubMed: PMID:8613547 ; PMID:20301758

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646403A>T , CM000665.2:g.81646403A>T	GRCh38
NC_000003.11:g.81695554A>T , CM000665.1:g.81695554A>T	GRCh37
NC_000003.10:g.81778244A>T	NCBI36
NG_011810.1:g.120398T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.771T>A MANE Select	ENSP00000410833.2:p.Phe257Leu
ENST00000429644.6:c.771T>A	ENSP00000410833.2:p.Phe257Leu
ENST00000489715.1:c.648T>A	ENSP00000419638.1:p.Phe216Leu
ENST00000498468.1:n.321T>A
NM_000158.3:c.771T>A	NP_000149.3:p.Phe257Leu
NM_000158.4:c.771T>A MANE Select	NP_000149.4:p.Phe257Leu