Canonical Allele Identifier: CA2499733
Gene: GBE1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.81586205G>A
GRCh37 chr3:g.81635356G>A
gnomAD v2:
3:81635356 G / A
gnomAD v3:
3:81586205 G / A
gnomAD v4:
chr3-81586205-G-A
Joint Max Group AF 0.00077815 (AFR)
Genomes Max Group AF 0.00076871 (AFR)
Exomes Max Group AF 0.00062766 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81586205G>A , CM000665.2:g.81586205G>A GRCh38
NC_000003.11:g.81635356G>A , CM000665.1:g.81635356G>A GRCh37
NC_000003.10:g.81718046G>A NCBI36
NG_011810.1:g.180596C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1237-15C>T MANE Select ENSP00000410833.2:n.1237-15C>T
ENST00000429644.6:c.1237-15C>T ENSP00000410833.2:n.1237-15C>T
ENST00000489715.1:c.1114-15C>T ENSP00000419638.1:n.1114-15C>T
NM_000158.3:c.1237-15C>T NP_000149.3:n.1237-15C>T
NM_000158.4:c.1237-15C>T MANE Select NP_000149.4:n.1237-15C>T
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