Canonical Allele Identifier: CA78292184
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1054932
ClinVar RCV Id: RCV001363525
dbSNP Id: rs868766244
gnomAD v4: 3-81646456-T-C
MyVariant Identifiers: chr3:g.81695607T>C (hg19) chr3:g.81646456T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646456T>C , CM000665.2:g.81646456T>C GRCh38
NC_000003.11:g.81695607T>C , CM000665.1:g.81695607T>C GRCh37
NC_000003.10:g.81778297T>C NCBI36
NG_011810.1:g.120345A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.718A>G MANE Select ENSP00000410833.2:p.Ile240Val
ENST00000429644.6:c.718A>G ENSP00000410833.2:p.Ile240Val
ENST00000489715.1:c.595A>G ENSP00000419638.1:p.Ile199Val
ENST00000498468.1:n.268A>G
NM_000158.3:c.718A>G NP_000149.3:p.Ile240Val
NM_000158.4:c.718A>G MANE Select NP_000149.4:p.Ile240Val
Search 100 bp 5'
Search 100 bp 3'