Canonical Allele Identifier: CA353688216
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81648858-A-G
MyVariant Identifiers: chr3:g.81698009A>G (hg19) chr3:g.81648858A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648858A>G , CM000665.2:g.81648858A>G GRCh38
NC_000003.11:g.81698009A>G , CM000665.1:g.81698009A>G GRCh37
NC_000003.10:g.81780699A>G NCBI36
NG_011810.1:g.117943T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.689T>C MANE Select ENSP00000410833.2:p.Leu230Pro
ENST00000429644.6:c.689T>C ENSP00000410833.2:p.Leu230Pro
ENST00000489715.1:c.566T>C ENSP00000419638.1:p.Leu189Pro
ENST00000498468.1:n.217T>C
NM_000158.3:c.689T>C NP_000149.3:p.Leu230Pro
NM_000158.4:c.689T>C MANE Select NP_000149.4:p.Leu230Pro
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