Canonical Allele Identifier: CA1378730133
Gene: GBE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648758C= , CM000665.2:g.81648758C= GRCh38
NC_000003.11:g.81697909C= , CM000665.1:g.81697909C= GRCh37
NC_000003.10:g.81780599C= NCBI36
NG_011810.1:g.118043G=

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+98G= MANE Select ENSP00000410833.2:n.691+98G=
ENST00000429644.6:c.691+98G= ENSP00000410833.2:n.691+98G=
ENST00000489715.1:c.568+98G= ENSP00000419638.1:n.568+98G=
ENST00000498468.1:n.219+98G=
NM_000158.3:c.691+98G= NP_000149.3:n.691+98G=
NM_000158.4:c.691+98G= MANE Select NP_000149.4:n.691+98G=
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