Canonical Allele Identifier: CA1378743418
Gene: GBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670902C= , CM000665.2:g.81670902C= GRCh38
NC_000003.11:g.81720053C= , CM000665.1:g.81720053C= GRCh37
NC_000003.10:g.81802743C= NCBI36
NG_011810.1:g.95899G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.365G= MANE Select ENSP00000410833.2:p.Trp122=
ENST00000429644.6:c.365G= ENSP00000410833.2:p.Trp122=
ENST00000477426.1:n.81G=
ENST00000489715.1:c.242G= ENSP00000419638.1:p.Trp81=
NM_000158.3:c.365G= NP_000149.3:p.Trp122=
NM_000158.4:c.365G= MANE Select NP_000149.4:p.Trp122=