Canonical Allele Identifier: CA353688921
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81670890-A-G
MyVariant Identifiers: chr3:g.81720041A>G (hg19) chr3:g.81670890A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670890A>G , CM000665.2:g.81670890A>G GRCh38
NC_000003.11:g.81720041A>G , CM000665.1:g.81720041A>G GRCh37
NC_000003.10:g.81802731A>G NCBI36
NG_011810.1:g.95911T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.377T>C MANE Select ENSP00000410833.2:p.Ile126Thr
ENST00000429644.6:c.377T>C ENSP00000410833.2:p.Ile126Thr
ENST00000477426.1:n.93T>C
ENST00000489715.1:c.254T>C ENSP00000419638.1:p.Ile85Thr
NM_000158.3:c.377T>C NP_000149.3:p.Ile126Thr
NM_000158.4:c.377T>C MANE Select NP_000149.4:p.Ile126Thr
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