Canonical Allele Identifier: CA353688456
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81648970-T-C
MyVariant Identifiers: chr3:g.81698121T>C (hg19) chr3:g.81648970T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648970T>C , CM000665.2:g.81648970T>C GRCh38
NC_000003.11:g.81698121T>C , CM000665.1:g.81698121T>C GRCh37
NC_000003.10:g.81780811T>C NCBI36
NG_011810.1:g.117831A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.577A>G MANE Select ENSP00000410833.2:p.Lys193Glu
ENST00000429644.6:c.577A>G ENSP00000410833.2:p.Lys193Glu
ENST00000486920.1:n.573A>G
ENST00000489715.1:c.454A>G ENSP00000419638.1:p.Lys152Glu
ENST00000498468.1:n.105A>G
NM_000158.3:c.577A>G NP_000149.3:p.Lys193Glu
NM_000158.4:c.577A>G MANE Select NP_000149.4:p.Lys193Glu
Search 100 bp 5'
Search 100 bp 3'