Canonical Allele Identifier: CA115749
Gene: GBE1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.81646403A>T
GRCh37 chr3:g.81695554A>T
Revel Score:
ENST00000429644 (MANE Select) 0.900
ENST00000264326 0.900
ENST00000489715 0.900
ENST00000536832 0.900
gnomAD v2:
3:81695554 A / T
gnomAD v3:
3:81646403 A / T
gnomAD v4:
chr3-81646403-A-T
Joint Max Group AF 8e-7 (NFE)
Exomes Max Group AF 8.5e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646403A>T , CM000665.2:g.81646403A>T GRCh38
NC_000003.11:g.81695554A>T , CM000665.1:g.81695554A>T GRCh37
NC_000003.10:g.81778244A>T NCBI36
NG_011810.1:g.120398T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.771T>A MANE Select ENSP00000410833.2:p.Phe257Leu
ENST00000429644.6:c.771T>A ENSP00000410833.2:p.Phe257Leu
ENST00000489715.1:c.648T>A ENSP00000419638.1:p.Phe216Leu
ENST00000498468.1:n.321T>A
NM_000158.3:c.771T>A NP_000149.3:p.Phe257Leu
NM_000158.4:c.771T>A MANE Select NP_000149.4:p.Phe257Leu
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