Canonical Allele Identifier: CA2499922

Gene: GBE1

Linked Data

• dbSNP Id: rs752744847
• ExAC: 3:81698165 T / C
• gnomAD v2: 3-81698165-T-C
• gnomAD v3: 3-81649014-T-C
• gnomAD v4: 3-81649014-T-C
• MyVariant Identifiers: chr3:g.81698165T>C (hg19) ; chr3:g.81649014T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81649014T>C , CM000665.2:g.81649014T>C	GRCh38
NC_000003.11:g.81698165T>C , CM000665.1:g.81698165T>C	GRCh37
NC_000003.10:g.81780855T>C	NCBI36
NG_011810.1:g.117787A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.556-23A>G MANE Select	ENSP00000410833.2:n.556-23A>G
ENST00000429644.6:c.556-23A>G	ENSP00000410833.2:n.556-23A>G
ENST00000486920.1:n.552-23A>G
ENST00000489715.1:c.433-23A>G	ENSP00000419638.1:n.433-23A>G
ENST00000498468.1:n.84-23A>G
NM_000158.3:c.556-23A>G	NP_000149.3:n.556-23A>G
NM_000158.4:c.556-23A>G MANE Select	NP_000149.4:n.556-23A>G