Canonical Allele Identifier: CA2499915
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1118451
ClinVar RCV Id: RCV001447574
dbSNP Id: rs762329960
ExAC: 3:81698122 C / T
gnomAD v2: 3-81698122-C-T
gnomAD v3: 3-81648971-C-T
gnomAD v4: 3-81648971-C-T
COSMIC: COSM6457147 COSM6457148
MyVariant Identifiers: chr3:g.81698122C>T (hg19) chr3:g.81648971C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648971C>T , CM000665.2:g.81648971C>T GRCh38
NC_000003.11:g.81698122C>T , CM000665.1:g.81698122C>T GRCh37
NC_000003.10:g.81780812C>T NCBI36
NG_011810.1:g.117830G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.576G>A MANE Select ENSP00000410833.2:p.Lys192=
ENST00000429644.6:c.576G>A ENSP00000410833.2:p.Lys192=
ENST00000486920.1:n.572G>A
ENST00000489715.1:c.453G>A ENSP00000419638.1:p.Lys151=
ENST00000498468.1:n.104G>A
NM_000158.3:c.576G>A NP_000149.3:p.Lys192=
NM_000158.4:c.576G>A MANE Select NP_000149.4:p.Lys192=
Search 100 bp 5'
Search 100 bp 3'