Canonical Allele Identifier: CA2500078

Gene: GBE1

Linked Data

• ClinVar Variation Id: 391376
• ClinVar RCV Id: RCV000443544 ; RCV002522627 ; RCV004533119
• dbSNP Id: rs371048718
• ExAC: 3:81810520 C / T
• gnomAD v2: 3-81810520-C-T
• gnomAD v3: 3-81761369-C-T
• gnomAD v4: 3-81761369-C-T
• MyVariant Identifiers: chr3:g.81810520C>T (hg19) ; chr3:g.81761369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81761369C>T , CM000665.2:g.81761369C>T	GRCh38
NC_000003.11:g.81810520C>T , CM000665.1:g.81810520C>T	GRCh37
NC_000003.10:g.81893210C>T	NCBI36
NG_011810.1:g.5432G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.143+6G>A MANE Select	ENSP00000410833.2:n.143+6G>A
ENST00000429644.6:c.143+6G>A	ENSP00000410833.2:n.143+6G>A
NM_000158.3:c.143+6G>A	NP_000149.3:n.143+6G>A
NM_000158.4:c.143+6G>A MANE Select	NP_000149.4:n.143+6G>A