Canonical Allele Identifier: CA2666624264
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81649129-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81649129C>T , CM000665.2:g.81649129C>T GRCh38
NC_000003.11:g.81698280C>T , CM000665.1:g.81698280C>T GRCh37
NC_000003.10:g.81780970C>T NCBI36
NG_011810.1:g.117672G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.556-138G>A MANE Select ENSP00000410833.2:n.556-138G>A
ENST00000429644.6:c.556-138G>A ENSP00000410833.2:n.556-138G>A
ENST00000486920.1:n.552-138G>A
ENST00000489715.1:c.433-138G>A ENSP00000419638.1:n.433-138G>A
ENST00000498468.1:n.84-138G>A
NM_000158.3:c.556-138G>A NP_000149.3:n.556-138G>A
NM_000158.4:c.556-138G>A MANE Select NP_000149.4:n.556-138G>A
Search 100 bp 5'
Search 100 bp 3'