Canonical Allele Identifier: CA1378730258
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81649054A= , CM000665.2:g.81649054A= GRCh38
NC_000003.11:g.81698205A= , CM000665.1:g.81698205A= GRCh37
NC_000003.10:g.81780895A= NCBI36
NG_011810.1:g.117747T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.556-63T= MANE Select ENSP00000410833.2:n.556-63T=
ENST00000429644.6:c.556-63T= ENSP00000410833.2:n.556-63T=
ENST00000486920.1:n.552-63T=
ENST00000489715.1:c.433-63T= ENSP00000419638.1:n.433-63T=
ENST00000498468.1:n.84-63T=
NM_000158.3:c.556-63T= NP_000149.3:n.556-63T=
NM_000158.4:c.556-63T= MANE Select NP_000149.4:n.556-63T=