Canonical Allele Identifier: CA1378730254
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81649048C= , CM000665.2:g.81649048C= GRCh38
NC_000003.11:g.81698199C= , CM000665.1:g.81698199C= GRCh37
NC_000003.10:g.81780889C= NCBI36
NG_011810.1:g.117753G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.556-57G= MANE Select ENSP00000410833.2:n.556-57G=
ENST00000429644.6:c.556-57G= ENSP00000410833.2:n.556-57G=
ENST00000486920.1:n.552-57G=
ENST00000489715.1:c.433-57G= ENSP00000419638.1:n.433-57G=
ENST00000498468.1:n.84-57G=
NM_000158.3:c.556-57G= NP_000149.3:n.556-57G=
NM_000158.4:c.556-57G= MANE Select NP_000149.4:n.556-57G=