Canonical Allele Identifier: CA2500078
Gene: GBE1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.81761369C>T
GRCh37 chr3:g.81810520C>T
gnomAD v2:
3:81810520 C / T
gnomAD v3:
3:81761369 C / T
gnomAD v4:
chr3-81761369-C-T
Joint Max Group AF 0.00024534 (EAS)
Genomes Max Group AF 0.00040753 (SAS)
Exomes Max Group AF 0.00017808 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81761369C>T , CM000665.2:g.81761369C>T GRCh38
NC_000003.11:g.81810520C>T , CM000665.1:g.81810520C>T GRCh37
NC_000003.10:g.81893210C>T NCBI36
NG_011810.1:g.5432G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.143+6G>A MANE Select ENSP00000410833.2:n.143+6G>A
ENST00000429644.6:c.143+6G>A ENSP00000410833.2:n.143+6G>A
NM_000158.3:c.143+6G>A NP_000149.3:n.143+6G>A
NM_000158.4:c.143+6G>A MANE Select NP_000149.4:n.143+6G>A
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