Canonical Allele Identifier: CA1378730239
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81649014T= , CM000665.2:g.81649014T= GRCh38
NC_000003.11:g.81698165T= , CM000665.1:g.81698165T= GRCh37
NC_000003.10:g.81780855T= NCBI36
NG_011810.1:g.117787A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.556-23A= MANE Select ENSP00000410833.2:n.556-23A=
ENST00000429644.6:c.556-23A= ENSP00000410833.2:n.556-23A=
ENST00000486920.1:n.552-23A=
ENST00000489715.1:c.433-23A= ENSP00000419638.1:n.433-23A=
ENST00000498468.1:n.84-23A=
NM_000158.3:c.556-23A= NP_000149.3:n.556-23A=
NM_000158.4:c.556-23A= MANE Select NP_000149.4:n.556-23A=