Canonical Allele Identifier: CA2500107
Gene: GBE1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.81761473C>T
GRCh37 chr3:g.81810624C>T
gnomAD v2:
3:81810624 C / T
gnomAD v3:
3:81761473 C / T
gnomAD v4:
chr3-81761473-C-T
Joint Max Group AF 0.00041311 (AFR)
Genomes Max Group AF 0.00020338 (AFR)
Exomes Max Group AF 0.00056976 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81761473C>T , CM000665.2:g.81761473C>T GRCh38
NC_000003.11:g.81810624C>T , CM000665.1:g.81810624C>T GRCh37
NC_000003.10:g.81893314C>T NCBI36
NG_011810.1:g.5328G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.45G>A MANE Select ENSP00000410833.2:p.Glu15=
ENST00000429644.6:c.45G>A ENSP00000410833.2:p.Glu15=
NM_000158.3:c.45G>A NP_000149.3:p.Glu15=
NM_000158.4:c.45G>A MANE Select NP_000149.4:p.Glu15=
Search 100 bp 5'
Search 100 bp 3'