Canonical Allele Identifier: CA544502696
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2939731
ClinVar RCV Id: RCV003794897
dbSNP Id: rs1373605266
gnomAD v2: 3-81627056-T-C
gnomAD v4: 3-81577905-T-C
MyVariant Identifiers: chr3:g.81627056T>C (hg19) chr3:g.81577905T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577905T>C , CM000665.2:g.81577905T>C GRCh38
NC_000003.11:g.81627056T>C , CM000665.1:g.81627056T>C GRCh37
NC_000003.10:g.81709746T>C NCBI36
NG_011810.1:g.188896A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1618+20A>G MANE Select ENSP00000410833.2:n.1618+20A>G
ENST00000429644.6:c.1618+20A>G ENSP00000410833.2:n.1618+20A>G
ENST00000484687.1:n.19+20A>G
ENST00000489715.1:c.1495+20A>G ENSP00000419638.1:n.1495+20A>G
NM_000158.3:c.1618+20A>G NP_000149.3:n.1618+20A>G
NM_000158.4:c.1618+20A>G MANE Select NP_000149.4:n.1618+20A>G
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