Canonical Allele Identifier: CA1378730264

Gene: GBE1

Linked Data

• dbSNP Id: rs1704809225
• gnomAD v3: 3-81649057-T-C
• gnomAD v4: 3-81649057-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81649057T>C , CM000665.2:g.81649057T>C	GRCh38
NC_000003.11:g.81698208T>C , CM000665.1:g.81698208T>C	GRCh37
NC_000003.10:g.81780898T>C	NCBI36
NG_011810.1:g.117744A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.556-66A>G MANE Select	ENSP00000410833.2:n.556-66A>G
ENST00000429644.6:c.556-66A>G	ENSP00000410833.2:n.556-66A>G
ENST00000486920.1:n.552-66A>G
ENST00000489715.1:c.433-66A>G	ENSP00000419638.1:n.433-66A>G
ENST00000498468.1:n.84-66A>G
NM_000158.3:c.556-66A>G	NP_000149.3:n.556-66A>G
NM_000158.4:c.556-66A>G MANE Select	NP_000149.4:n.556-66A>G