Canonical Allele Identifier: CA2756980695
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648771A>T , CM000665.2:g.81648771A>T GRCh38
NC_000003.11:g.81697922A>T , CM000665.1:g.81697922A>T GRCh37
NC_000003.10:g.81780612A>T NCBI36
NG_011810.1:g.118030T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+85T>A MANE Select ENSP00000410833.2:n.691+85T>A
ENST00000429644.6:c.691+85T>A ENSP00000410833.2:n.691+85T>A
ENST00000489715.1:c.568+85T>A ENSP00000419638.1:n.568+85T>A
ENST00000498468.1:n.219+85T>A
NM_000158.3:c.691+85T>A NP_000149.3:n.691+85T>A
NM_000158.4:c.691+85T>A MANE Select NP_000149.4:n.691+85T>A
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