Canonical Allele Identifier: CA353688212
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2028027
ClinVar RCV Id: RCV002866913
gnomAD v4: 3-81648855-C-T
COSMIC: COSM4879788 COSM4879789
MyVariant Identifiers: chr3:g.81698006C>T (hg19) chr3:g.81648855C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648855C>T , CM000665.2:g.81648855C>T GRCh38
NC_000003.11:g.81698006C>T , CM000665.1:g.81698006C>T GRCh37
NC_000003.10:g.81780696C>T NCBI36
NG_011810.1:g.117946G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+1G>A MANE Select ENSP00000410833.2:n.691+1G>A
ENST00000429644.6:c.691+1G>A ENSP00000410833.2:n.691+1G>A
ENST00000489715.1:c.568+1G>A ENSP00000419638.1:n.568+1G>A
ENST00000498468.1:n.219+1G>A
NM_000158.3:c.691+1G>A NP_000149.3:n.691+1G>A
NM_000158.4:c.691+1G>A MANE Select NP_000149.4:n.691+1G>A
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