Canonical Allele Identifier: CA544277698

Gene: GBE1

Linked Data

• dbSNP Id: rs1349688653
• gnomAD v2: 3-81695469-A-G
• gnomAD v3: 3-81646318-A-G
• gnomAD v4: 3-81646318-A-G
• MyVariant Identifiers: chr3:g.81695469A>G (hg19) ; chr3:g.81646318A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81646318A>G , CM000665.2:g.81646318A>G	GRCh38
NC_000003.11:g.81695469A>G , CM000665.1:g.81695469A>G	GRCh37
NC_000003.10:g.81778159A>G	NCBI36
NG_011810.1:g.120483T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.782+74T>C MANE Select	ENSP00000410833.2:n.782+74T>C
ENST00000429644.6:c.782+74T>C	ENSP00000410833.2:n.782+74T>C
ENST00000489715.1:c.659+74T>C	ENSP00000419638.1:n.659+74T>C
ENST00000498468.1:n.332+74T>C
NM_000158.3:c.782+74T>C	NP_000149.3:n.782+74T>C
NM_000158.4:c.782+74T>C MANE Select	NP_000149.4:n.782+74T>C