Canonical Allele Identifier: CA2500033
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 900179
ClinVar RCV Id: RCV001145201 RCV001145202
dbSNP Id: rs779371387
ExAC: 3:81754705 T / A
gnomAD v2: 3-81754705-T-A
gnomAD v3: 3-81705554-T-A
gnomAD v4: 3-81705554-T-A
MyVariant Identifiers: chr3:g.81754705T>A (hg19) chr3:g.81705554T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705554T>A , CM000665.2:g.81705554T>A GRCh38
NC_000003.11:g.81754705T>A , CM000665.1:g.81754705T>A GRCh37
NC_000003.10:g.81837395T>A NCBI36
NG_011810.1:g.61247A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.203A>T MANE Select ENSP00000410833.2:p.Lys68Met
ENST00000429644.6:c.203A>T ENSP00000410833.2:p.Lys68Met
ENST00000489715.1:c.80A>T ENSP00000419638.1:p.Lys27Met
NM_000158.3:c.203A>T NP_000149.3:p.Lys68Met
NM_000158.4:c.203A>T MANE Select NP_000149.4:p.Lys68Met
Search 100 bp 5'
Search 100 bp 3'