Canonical Allele Identifier: CA2499627
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1076542
ClinVar RCV Id: RCV001390489 RCV001826185
dbSNP Id: rs773775991
ExAC: 3:81627133 T / A
gnomAD v2: 3-81627133-T-A
MyVariant Identifiers: chr3:g.81627133T>A (hg19) chr3:g.81577982T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577982T>A , CM000665.2:g.81577982T>A GRCh38
NC_000003.11:g.81627133T>A , CM000665.1:g.81627133T>A GRCh37
NC_000003.10:g.81709823T>A NCBI36
NG_011810.1:g.188819A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1561A>T MANE Select ENSP00000410833.2:p.Lys521Ter
ENST00000429644.6:c.1561A>T ENSP00000410833.2:p.Lys521Ter
ENST00000489715.1:c.1438A>T ENSP00000419638.1:p.Lys480Ter
NM_000158.3:c.1561A>T NP_000149.3:p.Lys521Ter
NM_000158.4:c.1561A>T MANE Select NP_000149.4:p.Lys521Ter
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