Canonical Allele Identifier: CA434492534
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81578027-G-A
MyVariant Identifiers: chr3:g.81627178G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81578027G>A , CM000665.2:g.81578027G>A GRCh38
NC_000003.11:g.81627178G>A , CM000665.1:g.81627178G>A GRCh37
NC_000003.10:g.81709868G>A NCBI36
NG_011810.1:g.188774C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1516C>T MANE Select ENSP00000410833.2:p.Leu506=
ENST00000429644.6:c.1516C>T ENSP00000410833.2:p.Leu506=
ENST00000489715.1:c.1393C>T ENSP00000419638.1:p.Leu465=
NM_000158.3:c.1516C>T NP_000149.3:p.Leu506=
NM_000158.4:c.1516C>T MANE Select NP_000149.4:p.Leu506=
Search 100 bp 5'
Search 100 bp 3'