Canonical Allele Identifier: CA1378698104
Gene: GBE1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577902A= , CM000665.2:g.81577902A= GRCh38
NC_000003.11:g.81627053A= , CM000665.1:g.81627053A= GRCh37
NC_000003.10:g.81709743A= NCBI36
NG_011810.1:g.188899T=

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1618+23T= MANE Select ENSP00000410833.2:n.1618+23T=
ENST00000429644.6:c.1618+23T= ENSP00000410833.2:n.1618+23T=
ENST00000484687.1:n.19+23T=
ENST00000489715.1:c.1495+23T= ENSP00000419638.1:n.1495+23T=
NM_000158.3:c.1618+23T= NP_000149.3:n.1618+23T=
NM_000158.4:c.1618+23T= MANE Select NP_000149.4:n.1618+23T=
Search 100 bp 5'
Search 100 bp 3'