Canonical Allele Identifier: CA353689016
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 952612
ClinVar RCV Id: RCV001224752 RCV003462766
dbSNP Id: rs773473771
gnomAD v4: 3-81670931-G-T
MyVariant Identifiers: chr3:g.81720082G>T (hg19) chr3:g.81670931G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670931G>T , CM000665.2:g.81670931G>T GRCh38
NC_000003.11:g.81720082G>T , CM000665.1:g.81720082G>T GRCh37
NC_000003.10:g.81802772G>T NCBI36
NG_011810.1:g.95870C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.336C>A MANE Select ENSP00000410833.2:p.Tyr112Ter
ENST00000429644.6:c.336C>A ENSP00000410833.2:p.Tyr112Ter
ENST00000477426.1:n.52C>A
ENST00000489715.1:c.213C>A ENSP00000419638.1:p.Tyr71Ter
NM_000158.3:c.336C>A NP_000149.3:p.Tyr112Ter
NM_000158.4:c.336C>A MANE Select NP_000149.4:p.Tyr112Ter
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