Canonical Allele Identifier: CA1378729213

Gene: GBE1

Linked Data

• dbSNP Id: rs1704768511

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646666T>C , CM000665.2:g.81646666T>C	GRCh38
NC_000003.11:g.81695817T>C , CM000665.1:g.81695817T>C	GRCh37
NC_000003.10:g.81778507T>C	NCBI36
NG_011810.1:g.120135A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-184A>G MANE Select	ENSP00000410833.2:n.692-184A>G
ENST00000429644.6:c.692-184A>G	ENSP00000410833.2:n.692-184A>G
ENST00000489715.1:c.569-184A>G	ENSP00000419638.1:n.569-184A>G
ENST00000498468.1:n.220-162A>G
NM_000158.3:c.692-184A>G	NP_000149.3:n.692-184A>G
NM_000158.4:c.692-184A>G MANE Select	NP_000149.4:n.692-184A>G