Canonical Allele Identifier: CA353688073
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1379253954
gnomAD v2: 3-81695579-A-G
gnomAD v4: 3-81646428-A-G
MyVariant Identifiers: chr3:g.81695579A>G (hg19) chr3:g.81646428A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646428A>G , CM000665.2:g.81646428A>G GRCh38
NC_000003.11:g.81695579A>G , CM000665.1:g.81695579A>G GRCh37
NC_000003.10:g.81778269A>G NCBI36
NG_011810.1:g.120373T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.746T>C MANE Select ENSP00000410833.2:p.Phe249Ser
ENST00000429644.6:c.746T>C ENSP00000410833.2:p.Phe249Ser
ENST00000489715.1:c.623T>C ENSP00000419638.1:p.Phe208Ser
ENST00000498468.1:n.296T>C
NM_000158.3:c.746T>C NP_000149.3:p.Phe249Ser
NM_000158.4:c.746T>C MANE Select NP_000149.4:p.Phe249Ser
Search 100 bp 5'
Search 100 bp 3'