Canonical Allele Identifier: CA500229836
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2171065
ClinVar RCV Id: RCV003080869
MyVariant Identifiers: chr17:g.41063296T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911279T>C , CM000679.2:g.42911279T>C GRCh38
NC_000017.10:g.41063296T>C , CM000679.1:g.41063296T>C GRCh37
NC_000017.9:g.38316822T>C NCBI36
NG_011808.1:g.15482T>C , LRG_147:g.15482T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.927T>C MANE Select ENSP00000253801.1:p.Phe309=
ENST00000253801.6:c.927T>C ENSP00000253801.1:p.Phe309=
ENST00000585489.1:c.*319T>C ENSP00000466202.1:n.*319T>C
ENST00000592383.5:c.*319T>C ENSP00000465958.1:n.*319T>C
NM_000151.3:c.927T>C NP_000142.2:p.Phe309=
NM_001270397.1:c.*319T>C NP_001257326.1:n.*319T>C
NM_000151.4:c.927T>C MANE Select NP_000142.2:p.Phe309=
NM_001270397.2:c.*319T>C NP_001257326.1:n.*319T>C
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