Canonical Allele Identifier: CA399657160
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42911284-C-A
MyVariant Identifiers: chr17:g.41063301C>A (hg19) chr17:g.42911284C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911284C>A , CM000679.2:g.42911284C>A GRCh38
NC_000017.10:g.41063301C>A , CM000679.1:g.41063301C>A GRCh37
NC_000017.9:g.38316827C>A NCBI36
NG_011808.1:g.15487C>A , LRG_147:g.15487C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.932C>A MANE Select ENSP00000253801.1:p.Ser311Tyr
ENST00000253801.6:c.932C>A ENSP00000253801.1:p.Ser311Tyr
ENST00000585489.1:c.*324C>A ENSP00000466202.1:n.*324C>A
ENST00000592383.5:c.*324C>A ENSP00000465958.1:n.*324C>A
NM_000151.3:c.932C>A NP_000142.2:p.Ser311Tyr
NM_001270397.1:c.*324C>A NP_001257326.1:n.*324C>A
NM_000151.4:c.932C>A MANE Select NP_000142.2:p.Ser311Tyr
NM_001270397.2:c.*324C>A NP_001257326.1:n.*324C>A
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