Canonical Allele Identifier: CA353684752
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81627171G>C (hg19) chr3:g.81578020G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81578020G>C , CM000665.2:g.81578020G>C GRCh38
NC_000003.11:g.81627171G>C , CM000665.1:g.81627171G>C GRCh37
NC_000003.10:g.81709861G>C NCBI36
NG_011810.1:g.188781C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1523C>G MANE Select ENSP00000410833.2:p.Pro508Arg
ENST00000429644.6:c.1523C>G ENSP00000410833.2:p.Pro508Arg
ENST00000489715.1:c.1400C>G ENSP00000419638.1:p.Pro467Arg
NM_000158.3:c.1523C>G NP_000149.3:p.Pro508Arg
NM_000158.4:c.1523C>G MANE Select NP_000149.4:p.Pro508Arg
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