Canonical Allele Identifier: CA1378730292
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81649157C= , CM000665.2:g.81649157C= GRCh38
NC_000003.11:g.81698308C= , CM000665.1:g.81698308C= GRCh37
NC_000003.10:g.81780998C= NCBI36
NG_011810.1:g.117644G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.556-166G= MANE Select ENSP00000410833.2:n.556-166G=
ENST00000429644.6:c.556-166G= ENSP00000410833.2:n.556-166G=
ENST00000486920.1:n.552-166G=
ENST00000489715.1:c.433-166G= ENSP00000419638.1:n.433-166G=
ENST00000498468.1:n.84-166G=
NM_000158.3:c.556-166G= NP_000149.3:n.556-166G=
NM_000158.4:c.556-166G= MANE Select NP_000149.4:n.556-166G=