Canonical Allele Identifier: CA434493972
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2421144
ClinVar RCV Id: RCV003112804
MyVariant Identifiers: chr3:g.81695605G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646454G>A , CM000665.2:g.81646454G>A GRCh38
NC_000003.11:g.81695605G>A , CM000665.1:g.81695605G>A GRCh37
NC_000003.10:g.81778295G>A NCBI36
NG_011810.1:g.120347C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.720C>T MANE Select ENSP00000410833.2:p.Ile240=
ENST00000429644.6:c.720C>T ENSP00000410833.2:p.Ile240=
ENST00000489715.1:c.597C>T ENSP00000419638.1:p.Ile199=
ENST00000498468.1:n.270C>T
NM_000158.3:c.720C>T NP_000149.3:p.Ile240=
NM_000158.4:c.720C>T MANE Select NP_000149.4:p.Ile240=
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