Canonical Allele Identifier: CA353687718
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1007801
ClinVar RCV Id: RCV001305040
dbSNP Id: rs1705760813
gnomAD v4: 3-81705498-A-G
MyVariant Identifiers: chr3:g.81754649A>G (hg19) chr3:g.81705498A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705498A>G , CM000665.2:g.81705498A>G GRCh38
NC_000003.11:g.81754649A>G , CM000665.1:g.81754649A>G GRCh37
NC_000003.10:g.81837339A>G NCBI36
NG_011810.1:g.61303T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.259T>C MANE Select ENSP00000410833.2:p.Tyr87His
ENST00000429644.6:c.259T>C ENSP00000410833.2:p.Tyr87His
ENST00000489715.1:c.136T>C ENSP00000419638.1:p.Tyr46His
NM_000158.3:c.259T>C NP_000149.3:p.Tyr87His
NM_000158.4:c.259T>C MANE Select NP_000149.4:p.Tyr87His
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Search 100 bp 3'