Canonical Allele Identifier: CA353688231
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81698016T>A (hg19) chr3:g.81648865T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648865T>A , CM000665.2:g.81648865T>A GRCh38
NC_000003.11:g.81698016T>A , CM000665.1:g.81698016T>A GRCh37
NC_000003.10:g.81780706T>A NCBI36
NG_011810.1:g.117936A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.682A>T MANE Select ENSP00000410833.2:p.Lys228Ter
ENST00000429644.6:c.682A>T ENSP00000410833.2:p.Lys228Ter
ENST00000489715.1:c.559A>T ENSP00000419638.1:p.Lys187Ter
ENST00000498468.1:n.210A>T
NM_000158.3:c.682A>T NP_000149.3:p.Lys228Ter
NM_000158.4:c.682A>T MANE Select NP_000149.4:p.Lys228Ter
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