Canonical Allele Identifier: CA115743

Gene: GBE1

Linked Data

• ClinVar Variation Id: 2777
• ClinVar RCV Id: RCV000002907 ; RCV000020163 ; RCV000150105 ; RCV000304728 ; RCV000493505 ; RCV000555363 ; RCV000763520 ; RCV000991160
• dbSNP Id: rs80338671
• ExAC: 3:81691938 T / G
• gnomAD v2: 3-81691938-T-G
• gnomAD v3: 3-81642787-T-G
• gnomAD v4: 3-81642787-T-G
• MyVariant Identifiers: chr3:g.81691938T>G (hg19) ; chr3:g.81642787T>G (hg38)
• PubMed: PMID:8613547 ; PMID:9851430 ; PMID:20301758 ; PMID:20655781 ; PMID:22106711 ; PMID:23034915 ; PMID:23285490 ; PMID:25665141 ; PMID:26199317 ; PMID:26385640

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81642787T>G , CM000665.2:g.81642787T>G	GRCh38
NC_000003.11:g.81691938T>G , CM000665.1:g.81691938T>G	GRCh37
NC_000003.10:g.81774628T>G	NCBI36
NG_011810.1:g.124014A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.986A>C MANE Select	ENSP00000410833.2:p.Tyr329Ser
ENST00000429644.6:c.986A>C	ENSP00000410833.2:p.Tyr329Ser
ENST00000489715.1:c.863A>C	ENSP00000419638.1:p.Tyr288Ser
ENST00000498468.1:n.536A>C
NM_000158.3:c.986A>C	NP_000149.3:p.Tyr329Ser
NM_000158.4:c.986A>C MANE Select	NP_000149.4:p.Tyr329Ser