Canonical Allele Identifier: CA2499857

Gene: GBE1

Linked Data

• ClinVar Variation Id: 437422
• ClinVar RCV Id: RCV000502833 ; RCV000674419 ; RCV001770384 ; RCV002509416 ; RCV002524352
• dbSNP Id: rs369574719
• ExAC: 3:81692139 C / T
• gnomAD v2: 3-81692139-C-T
• gnomAD v3: 3-81642988-C-T
• gnomAD v4: 3-81642988-C-T
• COSMIC: COSM1425542 ; COSM1425543
• MyVariant Identifiers: chr3:g.81692139C>T (hg19) ; chr3:g.81642988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81642988C>T , CM000665.2:g.81642988C>T	GRCh38
NC_000003.11:g.81692139C>T , CM000665.1:g.81692139C>T	GRCh37
NC_000003.10:g.81774829C>T	NCBI36
NG_011810.1:g.123813G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.785G>A MANE Select	ENSP00000410833.2:p.Arg262His
ENST00000429644.6:c.785G>A	ENSP00000410833.2:p.Arg262His
ENST00000489715.1:c.662G>A	ENSP00000419638.1:p.Arg221His
ENST00000498468.1:n.335G>A
NM_000158.3:c.785G>A	NP_000149.3:p.Arg262His
NM_000158.4:c.785G>A MANE Select	NP_000149.4:p.Arg262His