Canonical Allele Identifier: CA2499619

Gene: GBE1

Linked Data

• ClinVar Variation Id: 346788
• ClinVar RCV Id: RCV000294270 ; RCV000386331 ; RCV001478610 ; RCV004530400
• dbSNP Id: rs140571802
• ExAC: 3:81627113 C / T
• gnomAD v2: 3-81627113-C-T
• gnomAD v3: 3-81577962-C-T
• gnomAD v4: 3-81577962-C-T
• MyVariant Identifiers: chr3:g.81627113C>T (hg19) ; chr3:g.81577962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81577962C>T , CM000665.2:g.81577962C>T	GRCh38
NC_000003.11:g.81627113C>T , CM000665.1:g.81627113C>T	GRCh37
NC_000003.10:g.81709803C>T	NCBI36
NG_011810.1:g.188839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1581G>A MANE Select	ENSP00000410833.2:p.Thr527=
ENST00000429644.6:c.1581G>A	ENSP00000410833.2:p.Thr527=
ENST00000489715.1:c.1458G>A	ENSP00000419638.1:p.Thr486=
NM_000158.3:c.1581G>A	NP_000149.3:p.Thr527=
NM_000158.4:c.1581G>A MANE Select	NP_000149.4:p.Thr527=