Canonical Allele Identifier: CA353688936
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1383085103
MyVariant Identifiers: chr3:g.81720048G>C (hg19) chr3:g.81670897G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670897G>C , CM000665.2:g.81670897G>C GRCh38
NC_000003.11:g.81720048G>C , CM000665.1:g.81720048G>C GRCh37
NC_000003.10:g.81802738G>C NCBI36
NG_011810.1:g.95904C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.370C>G MANE Select ENSP00000410833.2:p.Leu124Val
ENST00000429644.6:c.370C>G ENSP00000410833.2:p.Leu124Val
ENST00000477426.1:n.86C>G
ENST00000489715.1:c.247C>G ENSP00000419638.1:p.Leu83Val
NM_000158.3:c.370C>G NP_000149.3:p.Leu124Val
NM_000158.4:c.370C>G MANE Select NP_000149.4:p.Leu124Val
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