Canonical Allele Identifier: CA1378760276
Gene: GBE1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705606G= , CM000665.2:g.81705606G= GRCh38
NC_000003.11:g.81754757G= , CM000665.1:g.81754757G= GRCh37
NC_000003.10:g.81837447G= NCBI36
NG_011810.1:g.61195C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.151C= MANE Select ENSP00000410833.2:p.Gln51=
ENST00000429644.6:c.151C= ENSP00000410833.2:p.Gln51=
ENST00000489715.1:c.28C= ENSP00000419638.1:p.Gln10=
NM_000158.3:c.151C= NP_000149.3:p.Gln51=
NM_000158.4:c.151C= MANE Select NP_000149.4:p.Gln51=
Search 100 bp 5'
Search 100 bp 3'