Canonical Allele Identifier: CA434493983
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81646472-G-A
MyVariant Identifiers: chr3:g.81695623G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646472G>A , CM000665.2:g.81646472G>A GRCh38
NC_000003.11:g.81695623G>A , CM000665.1:g.81695623G>A GRCh37
NC_000003.10:g.81778313G>A NCBI36
NG_011810.1:g.120329C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.702C>T MANE Select ENSP00000410833.2:p.Cys234=
ENST00000429644.6:c.702C>T ENSP00000410833.2:p.Cys234=
ENST00000489715.1:c.579C>T ENSP00000419638.1:p.Cys193=
ENST00000498468.1:n.252C>T
NM_000158.3:c.702C>T NP_000149.3:p.Cys234=
NM_000158.4:c.702C>T MANE Select NP_000149.4:p.Cys234=
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