Canonical Allele Identifier: CA434493948
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1117062
ClinVar RCV Id: RCV001445629
dbSNP Id: rs1480699088
MyVariant Identifiers: chr3:g.81695557G>A (hg19) chr3:g.81646406G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646406G>A , CM000665.2:g.81646406G>A GRCh38
NC_000003.11:g.81695557G>A , CM000665.1:g.81695557G>A GRCh37
NC_000003.10:g.81778247G>A NCBI36
NG_011810.1:g.120395C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.768C>T MANE Select ENSP00000410833.2:p.Phe256=
ENST00000429644.6:c.768C>T ENSP00000410833.2:p.Phe256=
ENST00000489715.1:c.645C>T ENSP00000419638.1:p.Phe215=
ENST00000498468.1:n.318C>T
NM_000158.3:c.768C>T NP_000149.3:p.Phe256=
NM_000158.4:c.768C>T MANE Select NP_000149.4:p.Phe256=
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