Canonical Allele Identifier: CA434496943

Gene: GBE1

Linked Data

• MyVariant Identifiers: chr3:g.81720058T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81670907T>A , CM000665.2:g.81670907T>A	GRCh38
NC_000003.11:g.81720058T>A , CM000665.1:g.81720058T>A	GRCh37
NC_000003.10:g.81802748T>A	NCBI36
NG_011810.1:g.95894A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.360A>T MANE Select	ENSP00000410833.2:p.Gly120=
ENST00000429644.6:c.360A>T	ENSP00000410833.2:p.Gly120=
ENST00000477426.1:n.76A>T
ENST00000489715.1:c.237A>T	ENSP00000419638.1:p.Gly79=
NM_000158.3:c.360A>T	NP_000149.3:p.Gly120=
NM_000158.4:c.360A>T MANE Select	NP_000149.4:p.Gly120=