Canonical Allele Identifier: CA353687655
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1394501
ClinVar RCV Id: RCV001898547
dbSNP Id: rs1705760375
gnomAD v3: 3-81705470-T-C
gnomAD v4: 3-81705470-T-C
MyVariant Identifiers: chr3:g.81754621T>C (hg19) chr3:g.81705470T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705470T>C , CM000665.2:g.81705470T>C GRCh38
NC_000003.11:g.81754621T>C , CM000665.1:g.81754621T>C GRCh37
NC_000003.10:g.81837311T>C NCBI36
NG_011810.1:g.61331A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.287A>G MANE Select ENSP00000410833.2:p.Glu96Gly
ENST00000429644.6:c.287A>G ENSP00000410833.2:p.Glu96Gly
ENST00000489715.1:c.164A>G ENSP00000419638.1:p.Glu55Gly
NM_000158.3:c.287A>G NP_000149.3:p.Glu96Gly
NM_000158.4:c.287A>G MANE Select NP_000149.4:p.Glu96Gly
Search 100 bp 5'
Search 100 bp 3'