Canonical Allele Identifier: CA353688955
Gene: GBE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670904T>A , CM000665.2:g.81670904T>A GRCh38
NC_000003.11:g.81720055T>A , CM000665.1:g.81720055T>A GRCh37
NC_000003.10:g.81802745T>A NCBI36
NG_011810.1:g.95897A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.363A>T MANE Select ENSP00000410833.2:p.Lys121Asn
ENST00000429644.6:c.363A>T ENSP00000410833.2:p.Lys121Asn
ENST00000477426.1:n.79A>T
ENST00000489715.1:c.240A>T ENSP00000419638.1:p.Lys80Asn
NM_000158.3:c.363A>T NP_000149.3:p.Lys121Asn
NM_000158.4:c.363A>T MANE Select NP_000149.4:p.Lys121Asn