Canonical Allele Identifier: CA2499631
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1417572
ClinVar RCV Id: RCV001938468
dbSNP Id: rs751466558
ExAC: 3:81627166 T / A
gnomAD v2: 3-81627166-T-A
gnomAD v4: 3-81578015-T-A
MyVariant Identifiers: chr3:g.81627166T>A (hg19) chr3:g.81578015T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81578015T>A , CM000665.2:g.81578015T>A GRCh38
NC_000003.11:g.81627166T>A , CM000665.1:g.81627166T>A GRCh37
NC_000003.10:g.81709856T>A NCBI36
NG_011810.1:g.188786A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1528A>T MANE Select ENSP00000410833.2:p.Thr510Ser
ENST00000429644.6:c.1528A>T ENSP00000410833.2:p.Thr510Ser
ENST00000489715.1:c.1405A>T ENSP00000419638.1:p.Thr469Ser
NM_000158.3:c.1528A>T NP_000149.3:p.Thr510Ser
NM_000158.4:c.1528A>T MANE Select NP_000149.4:p.Thr510Ser
Search 100 bp 5'
Search 100 bp 3'