Canonical Allele Identifier: CA434494083

Gene: GBE1

Linked Data

• MyVariant Identifiers: chr3:g.81698109G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81648958G>A , CM000665.2:g.81648958G>A	GRCh38
NC_000003.11:g.81698109G>A , CM000665.1:g.81698109G>A	GRCh37
NC_000003.10:g.81780799G>A	NCBI36
NG_011810.1:g.117843C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.589C>T MANE Select	ENSP00000410833.2:p.Leu197=
ENST00000429644.6:c.589C>T	ENSP00000410833.2:p.Leu197=
ENST00000489715.1:c.466C>T	ENSP00000419638.1:p.Leu156=
ENST00000498468.1:n.117C>T
NM_000158.3:c.589C>T	NP_000149.3:p.Leu197=
NM_000158.4:c.589C>T MANE Select	NP_000149.4:p.Leu197=