Canonical Allele Identifier: CA434492205

Gene: GBE1

Linked Data

• MyVariant Identifiers: chr3:g.81627101A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81577950A>C , CM000665.2:g.81577950A>C	GRCh38
NC_000003.11:g.81627101A>C , CM000665.1:g.81627101A>C	GRCh37
NC_000003.10:g.81709791A>C	NCBI36
NG_011810.1:g.188851T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1593T>G MANE Select	ENSP00000410833.2:p.Gly531=
ENST00000429644.6:c.1593T>G	ENSP00000410833.2:p.Gly531=
ENST00000489715.1:c.1470T>G	ENSP00000419638.1:p.Gly490=
NM_000158.3:c.1593T>G	NP_000149.3:p.Gly531=
NM_000158.4:c.1593T>G MANE Select	NP_000149.4:p.Gly531=