Canonical Allele Identifier: CA434493951
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2028784
ClinVar RCV Id: RCV002876312
MyVariant Identifiers: chr3:g.81695563T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646412T>C , CM000665.2:g.81646412T>C GRCh38
NC_000003.11:g.81695563T>C , CM000665.1:g.81695563T>C GRCh37
NC_000003.10:g.81778253T>C NCBI36
NG_011810.1:g.120389A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.762A>G MANE Select ENSP00000410833.2:p.Thr254=
ENST00000429644.6:c.762A>G ENSP00000410833.2:p.Thr254=
ENST00000489715.1:c.639A>G ENSP00000419638.1:p.Thr213=
ENST00000498468.1:n.312A>G
NM_000158.3:c.762A>G NP_000149.3:p.Thr254=
NM_000158.4:c.762A>G MANE Select NP_000149.4:p.Thr254=
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