Canonical Allele Identifier: CA2666624152
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2954378
ClinVar RCV Id: RCV003813601
gnomAD v4: 3-81649003-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81649003A>G , CM000665.2:g.81649003A>G GRCh38
NC_000003.11:g.81698154A>G , CM000665.1:g.81698154A>G GRCh37
NC_000003.10:g.81780844A>G NCBI36
NG_011810.1:g.117798T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.556-12T>C MANE Select ENSP00000410833.2:n.556-12T>C
ENST00000429644.6:c.556-12T>C ENSP00000410833.2:n.556-12T>C
ENST00000486920.1:n.552-12T>C
ENST00000489715.1:c.433-12T>C ENSP00000419638.1:n.433-12T>C
ENST00000498468.1:n.84-12T>C
NM_000158.3:c.556-12T>C NP_000149.3:n.556-12T>C
NM_000158.4:c.556-12T>C MANE Select NP_000149.4:n.556-12T>C
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