Canonical Allele Identifier: CA2500016

Gene: GBE1

Linked Data

• ClinVar Variation Id: 390895
• ClinVar RCV Id: RCV000444093 ; RCV001145198 ; RCV001145197 ; RCV002522605
• dbSNP Id: rs184391304
• ExAC: 3:81754580 C / T
• gnomAD v2: 3-81754580-C-T
• gnomAD v3: 3-81705429-C-T
• gnomAD v4: 3-81705429-C-T
• MyVariant Identifiers: chr3:g.81754580C>T (hg19) ; chr3:g.81705429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.81705429C>T , CM000665.2:g.81705429C>T	GRCh38
NC_000003.11:g.81754580C>T , CM000665.1:g.81754580C>T	GRCh37
NC_000003.10:g.81837270C>T	NCBI36
NG_011810.1:g.61372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429644.7:c.313+15G>A MANE Select	ENSP00000410833.2:n.313+15G>A
ENST00000429644.6:c.313+15G>A	ENSP00000410833.2:n.313+15G>A
ENST00000489715.1:c.190+15G>A	ENSP00000419638.1:n.190+15G>A
NM_000158.3:c.313+15G>A	NP_000149.3:n.313+15G>A
NM_000158.4:c.313+15G>A MANE Select	NP_000149.4:n.313+15G>A