Canonical Allele Identifier: CA353687762
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81705518-C-A
MyVariant Identifiers: chr3:g.81754669C>A (hg19) chr3:g.81705518C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705518C>A , CM000665.2:g.81705518C>A GRCh38
NC_000003.11:g.81754669C>A , CM000665.1:g.81754669C>A GRCh37
NC_000003.10:g.81837359C>A NCBI36
NG_011810.1:g.61283G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.239G>T MANE Select ENSP00000410833.2:p.Arg80Ile
ENST00000429644.6:c.239G>T ENSP00000410833.2:p.Arg80Ile
ENST00000489715.1:c.116G>T ENSP00000419638.1:p.Arg39Ile
NM_000158.3:c.239G>T NP_000149.3:p.Arg80Ile
NM_000158.4:c.239G>T MANE Select NP_000149.4:p.Arg80Ile
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