Canonical Allele Identifier: CA1378729204
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646636T= , CM000665.2:g.81646636T= GRCh38
NC_000003.11:g.81695787T= , CM000665.1:g.81695787T= GRCh37
NC_000003.10:g.81778477T= NCBI36
NG_011810.1:g.120165A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-154A= MANE Select ENSP00000410833.2:n.692-154A=
ENST00000429644.6:c.692-154A= ENSP00000410833.2:n.692-154A=
ENST00000489715.1:c.569-154A= ENSP00000419638.1:n.569-154A=
ENST00000498468.1:n.220-132A=
NM_000158.3:c.692-154A= NP_000149.3:n.692-154A=
NM_000158.4:c.692-154A= MANE Select NP_000149.4:n.692-154A=