Canonical Allele Identifier: CA2500035
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1402457
ClinVar RCV Id: RCV001906446 RCV004042544
dbSNP Id: rs368256869
ExAC: 3:81754708 T / C
gnomAD v2: 3-81754708-T-C
gnomAD v3: 3-81705557-T-C
gnomAD v4: 3-81705557-T-C
MyVariant Identifiers: chr3:g.81754708T>C (hg19) chr3:g.81705557T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705557T>C , CM000665.2:g.81705557T>C GRCh38
NC_000003.11:g.81754708T>C , CM000665.1:g.81754708T>C GRCh37
NC_000003.10:g.81837398T>C NCBI36
NG_011810.1:g.61244A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.200A>G MANE Select ENSP00000410833.2:p.Asp67Gly
ENST00000429644.6:c.200A>G ENSP00000410833.2:p.Asp67Gly
ENST00000489715.1:c.77A>G ENSP00000419638.1:p.Asp26Gly
NM_000158.3:c.200A>G NP_000149.3:p.Asp67Gly
NM_000158.4:c.200A>G MANE Select NP_000149.4:p.Asp67Gly
Search 100 bp 5'
Search 100 bp 3'