Canonical Allele Identifier: CA1050114892

Gene: GBE1

Linked Data

• dbSNP Id: rs1703063340
• gnomAD v3: 3-81535542-A-G
• gnomAD v4: 3-81535542-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81535542A>G , CM000665.2:g.81535542A>G	GRCh38
NC_000003.11:g.81584693A>G , CM000665.1:g.81584693A>G	GRCh37
NC_000003.10:g.81667383A>G	NCBI36
NG_011810.1:g.231259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1804-217T>C MANE Select	ENSP00000410833.2:n.1804-217T>C
ENST00000429644.6:c.1804-217T>C	ENSP00000410833.2:n.1804-217T>C
ENST00000484687.1:n.205-217T>C
ENST00000489715.1:c.1681-217T>C	ENSP00000419638.1:n.1681-217T>C
NM_000158.3:c.1804-217T>C	NP_000149.3:n.1804-217T>C
NM_000158.4:c.1804-217T>C MANE Select	NP_000149.4:n.1804-217T>C