Canonical Allele Identifier: CA78292406
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1022193228
gnomAD v3: 3-81648774-G-A
gnomAD v4: 3-81648774-G-A
MyVariant Identifiers: chr3:g.81697925G>A (hg19) chr3:g.81648774G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648774G>A , CM000665.2:g.81648774G>A GRCh38
NC_000003.11:g.81697925G>A , CM000665.1:g.81697925G>A GRCh37
NC_000003.10:g.81780615G>A NCBI36
NG_011810.1:g.118027C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+82C>T MANE Select ENSP00000410833.2:n.691+82C>T
ENST00000429644.6:c.691+82C>T ENSP00000410833.2:n.691+82C>T
ENST00000489715.1:c.568+82C>T ENSP00000419638.1:n.568+82C>T
ENST00000498468.1:n.219+82C>T
NM_000158.3:c.691+82C>T NP_000149.3:n.691+82C>T
NM_000158.4:c.691+82C>T MANE Select NP_000149.4:n.691+82C>T
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