Canonical Allele Identifier: CA115747
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2779
dbSNP Id: rs80338672
gnomAD v2: 3-81627151-G-A
gnomAD v3: 3-81578000-G-A
gnomAD v4: 3-81578000-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81578000G>A , CM000665.2:g.81578000G>A GRCh38
NC_000003.11:g.81627151G>A , CM000665.1:g.81627151G>A GRCh37
NC_000003.10:g.81709841G>A NCBI36
NG_011810.1:g.188801C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1543C>T MANE Select ENSP00000410833.2:p.Arg515Cys
ENST00000429644.6:c.1543C>T ENSP00000410833.2:p.Arg515Cys
ENST00000489715.1:c.1420C>T ENSP00000419638.1:p.Arg474Cys
NM_000158.3:c.1543C>T NP_000149.3:p.Arg515Cys
NM_000158.4:c.1543C>T MANE Select NP_000149.4:p.Arg515Cys