Canonical Allele Identifier: CA353688491
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81648987-T-A
MyVariant Identifiers: chr3:g.81698138T>A (hg19) chr3:g.81648987T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648987T>A , CM000665.2:g.81648987T>A GRCh38
NC_000003.11:g.81698138T>A , CM000665.1:g.81698138T>A GRCh37
NC_000003.10:g.81780828T>A NCBI36
NG_011810.1:g.117814A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.560A>T MANE Select ENSP00000410833.2:p.Lys187Met
ENST00000429644.6:c.560A>T ENSP00000410833.2:p.Lys187Met
ENST00000486920.1:n.556A>T
ENST00000489715.1:c.437A>T ENSP00000419638.1:p.Lys146Met
ENST00000498468.1:n.88A>T
NM_000158.3:c.560A>T NP_000149.3:p.Lys187Met
NM_000158.4:c.560A>T MANE Select NP_000149.4:p.Lys187Met
Search 100 bp 5'
Search 100 bp 3'