Canonical Allele Identifier: CA2809535359
Gene: G6PC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901141A>G , CM000679.2:g.42901141A>G GRCh38
NC_000017.10:g.41053158A>G , CM000679.1:g.41053158A>G GRCh37
NC_000017.9:g.38306684A>G NCBI36
NG_011808.1:g.5344A>G , LRG_147:g.5344A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.230+35A>G MANE Select ENSP00000253801.1:n.230+35A>G
ENST00000253801.6:c.230+35A>G ENSP00000253801.1:n.230+35A>G
ENST00000585489.1:c.230+35A>G ENSP00000466202.1:n.230+35A>G
ENST00000588481.1:n.295+35A>G
ENST00000592383.5:c.230+35A>G ENSP00000465958.1:n.230+35A>G
NM_000151.3:c.230+35A>G NP_000142.2:n.230+35A>G
NM_001270397.1:c.230+35A>G NP_001257326.1:n.230+35A>G
NM_000151.4:c.230+35A>G MANE Select NP_000142.2:n.230+35A>G
NM_001270397.2:c.230+35A>G NP_001257326.1:n.230+35A>G
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