Canonical Allele Identifier: CA2600847812

Gene: GBE1

Linked Data

• dbSNP Id: rs2107066536
• gnomAD v3: 3-81646621-A-C
• gnomAD v4: 3-81646621-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646621A>C , CM000665.2:g.81646621A>C	GRCh38
NC_000003.11:g.81695772A>C , CM000665.1:g.81695772A>C	GRCh37
NC_000003.10:g.81778462A>C	NCBI36
NG_011810.1:g.120180T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.692-139T>G MANE Select	ENSP00000410833.2:n.692-139T>G
ENST00000429644.6:c.692-139T>G	ENSP00000410833.2:n.692-139T>G
ENST00000489715.1:c.569-139T>G	ENSP00000419638.1:n.569-139T>G
ENST00000498468.1:n.220-117T>G
NM_000158.3:c.692-139T>G	NP_000149.3:n.692-139T>G
NM_000158.4:c.692-139T>G MANE Select	NP_000149.4:n.692-139T>G