Canonical Allele Identifier: CA2499623
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1542308
ClinVar RCV Id: RCV002179696
dbSNP Id: rs779517065
ExAC: 3:81627122 T / C
gnomAD v2: 3-81627122-T-C
gnomAD v3: 3-81577971-T-C
gnomAD v4: 3-81577971-T-C
MyVariant Identifiers: chr3:g.81627122T>C (hg19) chr3:g.81577971T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577971T>C , CM000665.2:g.81577971T>C GRCh38
NC_000003.11:g.81627122T>C , CM000665.1:g.81627122T>C GRCh37
NC_000003.10:g.81709812T>C NCBI36
NG_011810.1:g.188830A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1572A>G MANE Select ENSP00000410833.2:p.Arg524=
ENST00000429644.6:c.1572A>G ENSP00000410833.2:p.Arg524=
ENST00000489715.1:c.1449A>G ENSP00000419638.1:p.Arg483=
NM_000158.3:c.1572A>G NP_000149.3:p.Arg524=
NM_000158.4:c.1572A>G MANE Select NP_000149.4:p.Arg524=
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