Canonical Allele Identifier: CA115745

Gene: GBE1

Linked Data

• ClinVar Variation Id: 2778
• ClinVar RCV Id: RCV000002909 ; RCV000056134 ; RCV000210781 ; RCV001050904
• dbSNP Id: rs137852886
• gnomAD v2: 3-81698027-A-G
• gnomAD v3: 3-81648876-A-G
• gnomAD v4: 3-81648876-A-G
• MyVariant Identifiers: chr3:g.81698027A>G (hg19) ; chr3:g.81648876A>G (hg38)
• PubMed: PMID:20301758

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81648876A>G , CM000665.2:g.81648876A>G	GRCh38
NC_000003.11:g.81698027A>G , CM000665.1:g.81698027A>G	GRCh37
NC_000003.10:g.81780717A>G	NCBI36
NG_011810.1:g.117925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.671T>C MANE Select	ENSP00000410833.2:p.Leu224Pro
ENST00000429644.6:c.671T>C	ENSP00000410833.2:p.Leu224Pro
ENST00000489715.1:c.548T>C	ENSP00000419638.1:p.Leu183Pro
ENST00000498468.1:n.199T>C
NM_000158.3:c.671T>C	NP_000149.3:p.Leu224Pro
NM_000158.4:c.671T>C MANE Select	NP_000149.4:p.Leu224Pro