Canonical Allele Identifier: CA434493947

Gene: GBE1

Linked Data

• MyVariant Identifiers: chr3:g.81695554A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646403A>G , CM000665.2:g.81646403A>G	GRCh38
NC_000003.11:g.81695554A>G , CM000665.1:g.81695554A>G	GRCh37
NC_000003.10:g.81778244A>G	NCBI36
NG_011810.1:g.120398T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.771T>C MANE Select	ENSP00000410833.2:p.Phe257=
ENST00000429644.6:c.771T>C	ENSP00000410833.2:p.Phe257=
ENST00000489715.1:c.648T>C	ENSP00000419638.1:p.Phe216=
ENST00000498468.1:n.321T>C
NM_000158.3:c.771T>C	NP_000149.3:p.Phe257=
NM_000158.4:c.771T>C MANE Select	NP_000149.4:p.Phe257=