Canonical Allele Identifier: CA353688220
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81698010G>C (hg19) chr3:g.81648859G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648859G>C , CM000665.2:g.81648859G>C GRCh38
NC_000003.11:g.81698010G>C , CM000665.1:g.81698010G>C GRCh37
NC_000003.10:g.81780700G>C NCBI36
NG_011810.1:g.117942C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.688C>G MANE Select ENSP00000410833.2:p.Leu230Val
ENST00000429644.6:c.688C>G ENSP00000410833.2:p.Leu230Val
ENST00000489715.1:c.565C>G ENSP00000419638.1:p.Leu189Val
ENST00000498468.1:n.216C>G
NM_000158.3:c.688C>G NP_000149.3:p.Leu230Val
NM_000158.4:c.688C>G MANE Select NP_000149.4:p.Leu230Val
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