Canonical Allele Identifier: CA1378743411
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670888G= , CM000665.2:g.81670888G= GRCh38
NC_000003.11:g.81720039G= , CM000665.1:g.81720039G= GRCh37
NC_000003.10:g.81802729G= NCBI36
NG_011810.1:g.95913C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.379C= MANE Select ENSP00000410833.2:p.Pro127=
ENST00000429644.6:c.379C= ENSP00000410833.2:p.Pro127=
ENST00000477426.1:n.95C=
ENST00000489715.1:c.256C= ENSP00000419638.1:p.Pro86=
NM_000158.3:c.379C= NP_000149.3:p.Pro127=
NM_000158.4:c.379C= MANE Select NP_000149.4:p.Pro127=