Canonical Allele Identifier: CA399657466
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42911336-C-A
MyVariant Identifiers: chr17:g.41063353C>A (hg19) chr17:g.42911336C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911336C>A , CM000679.2:g.42911336C>A GRCh38
NC_000017.10:g.41063353C>A , CM000679.1:g.41063353C>A GRCh37
NC_000017.9:g.38316879C>A NCBI36
NG_011808.1:g.15539C>A , LRG_147:g.15539C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.984C>A MANE Select ENSP00000253801.1:p.Cys328Ter
ENST00000253801.6:c.984C>A ENSP00000253801.1:p.Cys328Ter
ENST00000585489.1:c.*376C>A ENSP00000466202.1:n.*376C>A
ENST00000592383.5:c.*376C>A ENSP00000465958.1:n.*376C>A
NM_000151.3:c.984C>A NP_000142.2:p.Cys328Ter
NM_001270397.1:c.*376C>A NP_001257326.1:n.*376C>A
NM_000151.4:c.984C>A MANE Select NP_000142.2:p.Cys328Ter
NM_001270397.2:c.*376C>A NP_001257326.1:n.*376C>A
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