Canonical Allele Identifier: CA2500029
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2140635
ClinVar RCV Id: RCV003056548 RCV003147816
dbSNP Id: rs760216641
ExAC: 3:81754676 C / T
gnomAD v2: 3-81754676-C-T
gnomAD v3: 3-81705525-C-T
gnomAD v4: 3-81705525-C-T
COSMIC: COSM1048740 COSM1048741
MyVariant Identifiers: chr3:g.81754676C>T (hg19) chr3:g.81705525C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705525C>T , CM000665.2:g.81705525C>T GRCh38
NC_000003.11:g.81754676C>T , CM000665.1:g.81754676C>T GRCh37
NC_000003.10:g.81837366C>T NCBI36
NG_011810.1:g.61276G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.232G>A MANE Select ENSP00000410833.2:p.Val78Ile
ENST00000429644.6:c.232G>A ENSP00000410833.2:p.Val78Ile
ENST00000489715.1:c.109G>A ENSP00000419638.1:p.Val37Ile
NM_000158.3:c.232G>A NP_000149.3:p.Val78Ile
NM_000158.4:c.232G>A MANE Select NP_000149.4:p.Val78Ile
Search 100 bp 5'
Search 100 bp 3'