Canonical Allele Identifier: CA353689001
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1354970
ClinVar RCV Id: RCV001866684
dbSNP Id: rs1705180182
gnomAD v3: 3-81670924-T-C
gnomAD v4: 3-81670924-T-C
MyVariant Identifiers: chr3:g.81720075T>C (hg19) chr3:g.81670924T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670924T>C , CM000665.2:g.81670924T>C GRCh38
NC_000003.11:g.81720075T>C , CM000665.1:g.81720075T>C GRCh37
NC_000003.10:g.81802765T>C NCBI36
NG_011810.1:g.95877A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.343A>G MANE Select ENSP00000410833.2:p.Lys115Glu
ENST00000429644.6:c.343A>G ENSP00000410833.2:p.Lys115Glu
ENST00000477426.1:n.59A>G
ENST00000489715.1:c.220A>G ENSP00000419638.1:p.Lys74Glu
NM_000158.3:c.343A>G NP_000149.3:p.Lys115Glu
NM_000158.4:c.343A>G MANE Select NP_000149.4:p.Lys115Glu
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Search 100 bp 3'