Canonical Allele Identifier: CA2499809
Gene: GBE1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.81594016T>C
GRCh37 chr3:g.81643167T>C
Revel Score:
ENST00000429644 (MANE Select) 0.280
ENST00000264326 0.280
ENST00000489715 0.280
ENST00000536832 0.280
gnomAD v2:
3:81643167 T / C
gnomAD v3:
3:81594016 T / C
gnomAD v4:
chr3-81594016-T-C
Joint Max Group AF 0.99189835 (EAS)
Genomes Max Group AF 0.98753374 (AFR)
Exomes Max Group AF 0.99142662 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81594016T>C , CM000665.2:g.81594016T>C GRCh38
NC_000003.11:g.81643167T>C , CM000665.1:g.81643167T>C GRCh37
NC_000003.10:g.81725857T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1000A>G MANE Select ENSP00000410833.2:p.Ile334Val
ENST00000429644.6:c.1000A>G ENSP00000410833.2:p.Ile334Val
ENST00000489715.1:c.877A>G ENSP00000419638.1:p.Ile293Val
NM_000158.4:c.1000A>G MANE Select NP_000149.4:p.Ile334Val
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