Canonical Allele Identifier: CA115742
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2776
ClinVar RCV Id: RCV000002906 RCV003764518
dbSNP Id: rs397515342
MyVariant Identifiers: chr3:g.81692142C>T (hg19) chr3:g.81642991C>T (hg38)
PubMed: PMID:8059607 PMID:8613547
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81642991C>T , CM000665.2:g.81642991C>T GRCh38
NC_000003.11:g.81692142C>T , CM000665.1:g.81692142C>T GRCh37
NC_000003.10:g.81774832C>T NCBI36
NG_011810.1:g.123810G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.783-1G>A MANE Select ENSP00000410833.2:n.783-1G>A
ENST00000429644.6:c.783-1G>A ENSP00000410833.2:n.783-1G>A
ENST00000489715.1:c.660-1G>A ENSP00000419638.1:n.660-1G>A
ENST00000498468.1:n.333-1G>A
NM_000158.3:c.783-1G>A NP_000149.3:n.783-1G>A
NM_000158.4:c.783-1G>A MANE Select NP_000149.4:n.783-1G>A
Search 100 bp 5'
Search 100 bp 3'