Canonical Allele Identifier: CA2666624202
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81649044-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81649044C>T , CM000665.2:g.81649044C>T GRCh38
NC_000003.11:g.81698195C>T , CM000665.1:g.81698195C>T GRCh37
NC_000003.10:g.81780885C>T NCBI36
NG_011810.1:g.117757G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.556-53G>A MANE Select ENSP00000410833.2:n.556-53G>A
ENST00000429644.6:c.556-53G>A ENSP00000410833.2:n.556-53G>A
ENST00000486920.1:n.552-53G>A
ENST00000489715.1:c.433-53G>A ENSP00000419638.1:n.433-53G>A
ENST00000498468.1:n.84-53G>A
NM_000158.3:c.556-53G>A NP_000149.3:n.556-53G>A
NM_000158.4:c.556-53G>A MANE Select NP_000149.4:n.556-53G>A
Search 100 bp 5'
Search 100 bp 3'