Canonical Allele Identifier: CA434492195

Gene: GBE1

Linked Data

• MyVariant Identifiers: chr3:g.81627098T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81577947T>A , CM000665.2:g.81577947T>A	GRCh38
NC_000003.11:g.81627098T>A , CM000665.1:g.81627098T>A	GRCh37
NC_000003.10:g.81709788T>A	NCBI36
NG_011810.1:g.188854A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1596A>T MANE Select	ENSP00000410833.2:p.Gly532=
ENST00000429644.6:c.1596A>T	ENSP00000410833.2:p.Gly532=
ENST00000489715.1:c.1473A>T	ENSP00000419638.1:p.Gly491=
NM_000158.3:c.1596A>T	NP_000149.3:p.Gly532=
NM_000158.4:c.1596A>T MANE Select	NP_000149.4:p.Gly532=