Canonical Allele Identifier: CA434492281
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 752200
ClinVar RCV Id: RCV000929324
dbSNP Id: rs140571802
gnomAD v4: 3-81577962-C-G
MyVariant Identifiers: chr3:g.81627113C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577962C>G , CM000665.2:g.81577962C>G GRCh38
NC_000003.11:g.81627113C>G , CM000665.1:g.81627113C>G GRCh37
NC_000003.10:g.81709803C>G NCBI36
NG_011810.1:g.188839G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1581G>C MANE Select ENSP00000410833.2:p.Thr527=
ENST00000429644.6:c.1581G>C ENSP00000410833.2:p.Thr527=
ENST00000489715.1:c.1458G>C ENSP00000419638.1:p.Thr486=
NM_000158.3:c.1581G>C NP_000149.3:p.Thr527=
NM_000158.4:c.1581G>C MANE Select NP_000149.4:p.Thr527=
Search 100 bp 5'
Search 100 bp 3'