Canonical Allele Identifier: CA2638040800
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42909300-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909300C>A , CM000679.2:g.42909300C>A GRCh38
NC_000017.10:g.41061317C>A , CM000679.1:g.41061317C>A GRCh37
NC_000017.9:g.38314843C>A NCBI36
NG_011808.1:g.13503C>A , LRG_147:g.13503C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.447-3C>A MANE Select ENSP00000253801.1:n.447-3C>A
ENST00000253801.6:c.447-3C>A ENSP00000253801.1:n.447-3C>A
ENST00000585489.1:c.447-1615C>A ENSP00000466202.1:n.447-1615C>A
ENST00000592383.5:c.370-3C>A ENSP00000465958.1:n.370-3C>A
NM_000151.3:c.447-3C>A NP_000142.2:n.447-3C>A
NM_001270397.1:c.370-3C>A NP_001257326.1:n.370-3C>A
NM_000151.4:c.447-3C>A MANE Select NP_000142.2:n.447-3C>A
NM_001270397.2:c.370-3C>A NP_001257326.1:n.370-3C>A
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