Canonical Allele Identifier: CA353684562
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2077765
ClinVar RCV Id: RCV002976666
dbSNP Id: rs1703670363
MyVariant Identifiers: chr3:g.81627079T>A (hg19) chr3:g.81577928T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577928T>A , CM000665.2:g.81577928T>A GRCh38
NC_000003.11:g.81627079T>A , CM000665.1:g.81627079T>A GRCh37
NC_000003.10:g.81709769T>A NCBI36
NG_011810.1:g.188873A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1615A>T MANE Select ENSP00000410833.2:p.Met539Leu
ENST00000429644.6:c.1615A>T ENSP00000410833.2:p.Met539Leu
ENST00000484687.1:n.16A>T
ENST00000489715.1:c.1492A>T ENSP00000419638.1:p.Met498Leu
NM_000158.3:c.1615A>T NP_000149.3:p.Met539Leu
NM_000158.4:c.1615A>T MANE Select NP_000149.4:p.Met539Leu
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