Canonical Allele Identifier: CA434496052
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1705761953
gnomAD v3: 3-81705559-A-G
gnomAD v4: 3-81705559-A-G
MyVariant Identifiers: chr3:g.81754710A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705559A>G , CM000665.2:g.81705559A>G GRCh38
NC_000003.11:g.81754710A>G , CM000665.1:g.81754710A>G GRCh37
NC_000003.10:g.81837400A>G NCBI36
NG_011810.1:g.61242T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.198T>C MANE Select ENSP00000410833.2:p.Ile66=
ENST00000429644.6:c.198T>C ENSP00000410833.2:p.Ile66=
ENST00000489715.1:c.75T>C ENSP00000419638.1:p.Ile25=
NM_000158.3:c.198T>C NP_000149.3:p.Ile66=
NM_000158.4:c.198T>C MANE Select NP_000149.4:p.Ile66=
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