Canonical Allele Identifier: CA353687714
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1705760769
gnomAD v4: 3-81705497-T-A
MyVariant Identifiers: chr3:g.81754648T>A (hg19) chr3:g.81705497T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705497T>A , CM000665.2:g.81705497T>A GRCh38
NC_000003.11:g.81754648T>A , CM000665.1:g.81754648T>A GRCh37
NC_000003.10:g.81837338T>A NCBI36
NG_011810.1:g.61304A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.260A>T MANE Select ENSP00000410833.2:p.Tyr87Phe
ENST00000429644.6:c.260A>T ENSP00000410833.2:p.Tyr87Phe
ENST00000489715.1:c.137A>T ENSP00000419638.1:p.Tyr46Phe
NM_000158.3:c.260A>T NP_000149.3:p.Tyr87Phe
NM_000158.4:c.260A>T MANE Select NP_000149.4:p.Tyr87Phe
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