Canonical Allele Identifier: CA1378679331
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1703062921
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535503T>A , CM000665.2:g.81535503T>A GRCh38
NC_000003.11:g.81584654T>A , CM000665.1:g.81584654T>A GRCh37
NC_000003.10:g.81667344T>A NCBI36
NG_011810.1:g.231298A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-178A>T MANE Select ENSP00000410833.2:n.1804-178A>T
ENST00000429644.6:c.1804-178A>T ENSP00000410833.2:n.1804-178A>T
ENST00000484687.1:n.205-178A>T
ENST00000489715.1:c.1681-178A>T ENSP00000419638.1:n.1681-178A>T
NM_000158.3:c.1804-178A>T NP_000149.3:n.1804-178A>T
NM_000158.4:c.1804-178A>T MANE Select NP_000149.4:n.1804-178A>T
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