Canonical Allele Identifier: CA353688123
Gene: GBE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646449T>A , CM000665.2:g.81646449T>A GRCh38
NC_000003.11:g.81695600T>A , CM000665.1:g.81695600T>A GRCh37
NC_000003.10:g.81778290T>A NCBI36
NG_011810.1:g.120352A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.725A>T MANE Select ENSP00000410833.2:p.Glu242Val
ENST00000429644.6:c.725A>T ENSP00000410833.2:p.Glu242Val
ENST00000489715.1:c.602A>T ENSP00000419638.1:p.Glu201Val
ENST00000498468.1:n.275A>T
NM_000158.3:c.725A>T NP_000149.3:p.Glu242Val
NM_000158.4:c.725A>T MANE Select NP_000149.4:p.Glu242Val