Canonical Allele Identifier: CA353688081
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81695582C>G (hg19) chr3:g.81646431C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646431C>G , CM000665.2:g.81646431C>G GRCh38
NC_000003.11:g.81695582C>G , CM000665.1:g.81695582C>G GRCh37
NC_000003.10:g.81778272C>G NCBI36
NG_011810.1:g.120370G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.743G>C MANE Select ENSP00000410833.2:p.Ser248Thr
ENST00000429644.6:c.743G>C ENSP00000410833.2:p.Ser248Thr
ENST00000489715.1:c.620G>C ENSP00000419638.1:p.Ser207Thr
ENST00000498468.1:n.293G>C
NM_000158.3:c.743G>C NP_000149.3:p.Ser248Thr
NM_000158.4:c.743G>C MANE Select NP_000149.4:p.Ser248Thr
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