Canonical Allele Identifier: CA2499591

Gene: GBE1

Linked Data

• ClinVar Variation Id: 425301
• ClinVar RCV Id: RCV000487962 ; RCV000855462 ; RCV001329659 ; RCV001829394 ; RCV002528222 ; RCV003330722
• dbSNP Id: rs552094593
• ExAC: 3:81586172 G / A
• gnomAD v2: 3-81586172-G-A
• gnomAD v3: 3-81537021-G-A
• gnomAD v4: 3-81537021-G-A
• COSMIC: COSM6098507 ; COSM6098508
• MyVariant Identifiers: chr3:g.81586172G>A (hg19) ; chr3:g.81537021G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81537021G>A , CM000665.2:g.81537021G>A	GRCh38
NC_000003.11:g.81586172G>A , CM000665.1:g.81586172G>A	GRCh37
NC_000003.10:g.81668862G>A	NCBI36
NG_011810.1:g.229780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.1693C>T MANE Select	ENSP00000410833.2:p.Arg565Trp
ENST00000429644.6:c.1693C>T	ENSP00000410833.2:p.Arg565Trp
ENST00000484687.1:n.94C>T
ENST00000489715.1:c.1570C>T	ENSP00000419638.1:p.Arg524Trp
NM_000158.3:c.1693C>T	NP_000149.3:p.Arg565Trp
NM_000158.4:c.1693C>T MANE Select	NP_000149.4:p.Arg565Trp