Canonical Allele Identifier: CA10616731

Gene: GBE1

Linked Data

• ClinVar Variation Id: 346787
• ClinVar RCV Id: RCV000329434 ; RCV001828341 ; RCV001850838
• dbSNP Id: rs886058900
• gnomAD v2: 3-81627090-T-C
• gnomAD v3: 3-81577939-T-C
• gnomAD v4: 3-81577939-T-C
• MyVariant Identifiers: chr3:g.81627090T>C (hg19) ; chr3:g.81577939T>C (hg38)
• PubMed: PMID:17994551 ; PMID:20058079 ; PMID:25728520

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81577939T>C , CM000665.2:g.81577939T>C	GRCh38
NC_000003.11:g.81627090T>C , CM000665.1:g.81627090T>C	GRCh37
NC_000003.10:g.81709780T>C	NCBI36
NG_011810.1:g.188862A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1604A>G MANE Select	ENSP00000410833.2:p.Tyr535Cys
ENST00000429644.6:c.1604A>G	ENSP00000410833.2:p.Tyr535Cys
ENST00000484687.1:n.5A>G
ENST00000489715.1:c.1481A>G	ENSP00000419638.1:p.Tyr494Cys
NM_000158.3:c.1604A>G	NP_000149.3:p.Tyr535Cys
NM_000158.4:c.1604A>G MANE Select	NP_000149.4:p.Tyr535Cys