Canonical Allele Identifier: CA2500001
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 725711
ClinVar RCV Id: RCV000899818 RCV001276100 RCV004541882
dbSNP Id: rs374518318
ExAC: 3:81720085 C / T
gnomAD v2: 3-81720085-C-T
gnomAD v3: 3-81670934-C-T
gnomAD v4: 3-81670934-C-T
MyVariant Identifiers: chr3:g.81720085C>T (hg19) chr3:g.81670934C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670934C>T , CM000665.2:g.81670934C>T GRCh38
NC_000003.11:g.81720085C>T , CM000665.1:g.81720085C>T GRCh37
NC_000003.10:g.81802775C>T NCBI36
NG_011810.1:g.95867G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.333G>A MANE Select ENSP00000410833.2:p.Ser111=
ENST00000429644.6:c.333G>A ENSP00000410833.2:p.Ser111=
ENST00000477426.1:n.49G>A
ENST00000489715.1:c.210G>A ENSP00000419638.1:p.Ser70=
NM_000158.3:c.333G>A NP_000149.3:p.Ser111=
NM_000158.4:c.333G>A MANE Select NP_000149.4:p.Ser111=
Search 100 bp 5'
Search 100 bp 3'