Canonical Allele Identifier: CA115745
Gene: GBE1 HGNC NCBI

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
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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
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