Canonical Allele Identifier: CA1378729200

Gene: GBE1

Linked Data

• dbSNP Id: rs1704768057

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646629A>G , CM000665.2:g.81646629A>G	GRCh38
NC_000003.11:g.81695780A>G , CM000665.1:g.81695780A>G	GRCh37
NC_000003.10:g.81778470A>G	NCBI36
NG_011810.1:g.120172T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-147T>C MANE Select	ENSP00000410833.2:n.692-147T>C
ENST00000429644.6:c.692-147T>C	ENSP00000410833.2:n.692-147T>C
ENST00000489715.1:c.569-147T>C	ENSP00000419638.1:n.569-147T>C
ENST00000498468.1:n.220-125T>C
NM_000158.3:c.692-147T>C	NP_000149.3:n.692-147T>C
NM_000158.4:c.692-147T>C MANE Select	NP_000149.4:n.692-147T>C