Canonical Allele Identifier: CA434493943
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81646397-A-G
MyVariant Identifiers: chr3:g.81695548A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646397A>G , CM000665.2:g.81646397A>G GRCh38
NC_000003.11:g.81695548A>G , CM000665.1:g.81695548A>G GRCh37
NC_000003.10:g.81778238A>G NCBI36
NG_011810.1:g.120404T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.777T>C MANE Select ENSP00000410833.2:p.Ala259=
ENST00000429644.6:c.777T>C ENSP00000410833.2:p.Ala259=
ENST00000489715.1:c.654T>C ENSP00000419638.1:p.Ala218=
ENST00000498468.1:n.327T>C
NM_000158.3:c.777T>C NP_000149.3:p.Ala259=
NM_000158.4:c.777T>C MANE Select NP_000149.4:p.Ala259=
Search 100 bp 5'
Search 100 bp 3'