Canonical Allele Identifier: CA353688234
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81698017G>C (hg19) chr3:g.81648866G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648866G>C , CM000665.2:g.81648866G>C GRCh38
NC_000003.11:g.81698017G>C , CM000665.1:g.81698017G>C GRCh37
NC_000003.10:g.81780707G>C NCBI36
NG_011810.1:g.117935C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.681C>G MANE Select ENSP00000410833.2:p.Ile227Met
ENST00000429644.6:c.681C>G ENSP00000410833.2:p.Ile227Met
ENST00000489715.1:c.558C>G ENSP00000419638.1:p.Ile186Met
ENST00000498468.1:n.209C>G
NM_000158.3:c.681C>G NP_000149.3:p.Ile227Met
NM_000158.4:c.681C>G MANE Select NP_000149.4:p.Ile227Met
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