Canonical Allele Identifier: CA353687652
Gene: GBE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705469T>A , CM000665.2:g.81705469T>A GRCh38
NC_000003.11:g.81754620T>A , CM000665.1:g.81754620T>A GRCh37
NC_000003.10:g.81837310T>A NCBI36
NG_011810.1:g.61332A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.288A>T MANE Select ENSP00000410833.2:p.Glu96Asp
ENST00000429644.6:c.288A>T ENSP00000410833.2:p.Glu96Asp
ENST00000489715.1:c.165A>T ENSP00000419638.1:p.Glu55Asp
NM_000158.3:c.288A>T NP_000149.3:p.Glu96Asp
NM_000158.4:c.288A>T MANE Select NP_000149.4:p.Glu96Asp