Canonical Allele Identifier: CA1378760119
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705510C= , CM000665.2:g.81705510C= GRCh38
NC_000003.11:g.81754661C= , CM000665.1:g.81754661C= GRCh37
NC_000003.10:g.81837351C= NCBI36
NG_011810.1:g.61291G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.247G= MANE Select ENSP00000410833.2:p.Asp83=
ENST00000429644.6:c.247G= ENSP00000410833.2:p.Asp83=
ENST00000489715.1:c.124G= ENSP00000419638.1:p.Asp42=
NM_000158.3:c.247G= NP_000149.3:p.Asp83=
NM_000158.4:c.247G= MANE Select NP_000149.4:p.Asp83=
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