Canonical Allele Identifier: CA115753
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2782
dbSNP Id: rs80338673
gnomAD v2: 3-81627123-C-T
gnomAD v4: 3-81577972-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577972C>T , CM000665.2:g.81577972C>T GRCh38
NC_000003.11:g.81627123C>T , CM000665.1:g.81627123C>T GRCh37
NC_000003.10:g.81709813C>T NCBI36
NG_011810.1:g.188829G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1571G>A MANE Select ENSP00000410833.2:p.Arg524Gln
ENST00000429644.6:c.1571G>A ENSP00000410833.2:p.Arg524Gln
ENST00000489715.1:c.1448G>A ENSP00000419638.1:p.Arg483Gln
NM_000158.3:c.1571G>A NP_000149.3:p.Arg524Gln
NM_000158.4:c.1571G>A MANE Select NP_000149.4:p.Arg524Gln