Canonical Allele Identifier: CA1378743431
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670929G= , CM000665.2:g.81670929G= GRCh38
NC_000003.11:g.81720080G= , CM000665.1:g.81720080G= GRCh37
NC_000003.10:g.81802770G= NCBI36
NG_011810.1:g.95872C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.338C= MANE Select ENSP00000410833.2:p.Pro113=
ENST00000429644.6:c.338C= ENSP00000410833.2:p.Pro113=
ENST00000477426.1:n.54C=
ENST00000489715.1:c.215C= ENSP00000419638.1:p.Pro72=
NM_000158.3:c.338C= NP_000149.3:p.Pro113=
NM_000158.4:c.338C= MANE Select NP_000149.4:p.Pro113=