Canonical Allele Identifier: CA1378698098
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577880T= , CM000665.2:g.81577880T= GRCh38
NC_000003.11:g.81627031T= , CM000665.1:g.81627031T= GRCh37
NC_000003.10:g.81709721T= NCBI36
NG_011810.1:g.188921A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1618+45A= MANE Select ENSP00000410833.2:n.1618+45A=
ENST00000429644.6:c.1618+45A= ENSP00000410833.2:n.1618+45A=
ENST00000484687.1:n.19+45A=
ENST00000489715.1:c.1495+45A= ENSP00000419638.1:n.1495+45A=
NM_000158.3:c.1618+45A= NP_000149.3:n.1618+45A=
NM_000158.4:c.1618+45A= MANE Select NP_000149.4:n.1618+45A=
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