Canonical Allele Identifier: CA1378730132
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648756A= , CM000665.2:g.81648756A= GRCh38
NC_000003.11:g.81697907A= , CM000665.1:g.81697907A= GRCh37
NC_000003.10:g.81780597A= NCBI36
NG_011810.1:g.118045T=

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+100T= MANE Select ENSP00000410833.2:n.691+100T=
ENST00000429644.6:c.691+100T= ENSP00000410833.2:n.691+100T=
ENST00000489715.1:c.568+100T= ENSP00000419638.1:n.568+100T=
ENST00000498468.1:n.219+100T=
NM_000158.3:c.691+100T= NP_000149.3:n.691+100T=
NM_000158.4:c.691+100T= MANE Select NP_000149.4:n.691+100T=
Search 100 bp 5'
Search 100 bp 3'