Canonical Allele Identifier: CA2499826

Gene: GBE1

Linked Data

• ClinVar Variation Id: 371439
• ClinVar RCV Id: RCV000410814 ; RCV000490240 ; RCV000529291 ; RCV001145097 ; RCV001172459
• dbSNP Id: rs80338671
• ExAC: 3:81691938 T / C
• gnomAD v2: 3-81691938-T-C
• gnomAD v3: 3-81642787-T-C
• gnomAD v4: 3-81642787-T-C
• MyVariant Identifiers: chr3:g.81691938T>C (hg19) ; chr3:g.81642787T>C (hg38)
• PubMed: PMID:23034915

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.986A>G MANE Select	ENSP00000410833.2:p.Tyr329Cys
ENST00000429644.6:c.986A>G	ENSP00000410833.2:p.Tyr329Cys
ENST00000489715.1:c.863A>G	ENSP00000419638.1:p.Tyr288Cys
ENST00000498468.1:n.536A>G
NM_000158.3:c.986A>G	NP_000149.3:p.Tyr329Cys
NM_000158.4:c.986A>G MANE Select	NP_000149.4:p.Tyr329Cys