Canonical Allele Identifier: CA353688875
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81720018C>G (hg19) chr3:g.81670867C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670867C>G , CM000665.2:g.81670867C>G GRCh38
NC_000003.11:g.81720018C>G , CM000665.1:g.81720018C>G GRCh37
NC_000003.10:g.81802708C>G NCBI36
NG_011810.1:g.95934G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.400G>C MANE Select ENSP00000410833.2:p.Val134Leu
ENST00000429644.6:c.400G>C ENSP00000410833.2:p.Val134Leu
ENST00000477426.1:n.116G>C
ENST00000489715.1:c.277G>C ENSP00000419638.1:p.Val93Leu
NM_000158.3:c.400G>C NP_000149.3:p.Val134Leu
NM_000158.4:c.400G>C MANE Select NP_000149.4:p.Val134Leu
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