Canonical Allele Identifier: CA1378730202
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648934C= , CM000665.2:g.81648934C= GRCh38
NC_000003.11:g.81698085C= , CM000665.1:g.81698085C= GRCh37
NC_000003.10:g.81780775C= NCBI36
NG_011810.1:g.117867G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.613G= MANE Select ENSP00000410833.2:p.Gly205=
ENST00000429644.6:c.613G= ENSP00000410833.2:p.Gly205=
ENST00000489715.1:c.490G= ENSP00000419638.1:p.Gly164=
ENST00000498468.1:n.141G=
NM_000158.3:c.613G= NP_000149.3:p.Gly205=
NM_000158.4:c.613G= MANE Select NP_000149.4:p.Gly205=