Canonical Allele Identifier: CA353688074
Gene: GBE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646428A>T , CM000665.2:g.81646428A>T GRCh38
NC_000003.11:g.81695579A>T , CM000665.1:g.81695579A>T GRCh37
NC_000003.10:g.81778269A>T NCBI36
NG_011810.1:g.120373T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.746T>A MANE Select ENSP00000410833.2:p.Phe249Tyr
ENST00000429644.6:c.746T>A ENSP00000410833.2:p.Phe249Tyr
ENST00000489715.1:c.623T>A ENSP00000419638.1:p.Phe208Tyr
ENST00000498468.1:n.296T>A
NM_000158.3:c.746T>A NP_000149.3:p.Phe249Tyr
NM_000158.4:c.746T>A MANE Select NP_000149.4:p.Phe249Tyr