Canonical Allele Identifier: CA2499995
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 733683
ClinVar RCV Id: RCV000909016 RCV001275862 RCV002225767 RCV004533480
dbSNP Id: rs186942296
ExAC: 3:81720068 A / G
gnomAD v2: 3-81720068-A-G
gnomAD v3: 3-81670917-A-G
gnomAD v4: 3-81670917-A-G
MyVariant Identifiers: chr3:g.81720068A>G (hg19) chr3:g.81670917A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670917A>G , CM000665.2:g.81670917A>G GRCh38
NC_000003.11:g.81720068A>G , CM000665.1:g.81720068A>G GRCh37
NC_000003.10:g.81802758A>G NCBI36
NG_011810.1:g.95884T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.350T>C MANE Select ENSP00000410833.2:p.Leu117Pro
ENST00000429644.6:c.350T>C ENSP00000410833.2:p.Leu117Pro
ENST00000477426.1:n.66T>C
ENST00000489715.1:c.227T>C ENSP00000419638.1:p.Leu76Pro
NM_000158.3:c.350T>C NP_000149.3:p.Leu117Pro
NM_000158.4:c.350T>C MANE Select NP_000149.4:p.Leu117Pro
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