Canonical Allele Identifier: CA500229806
Gene: G6PC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.41063275C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911258C>G , CM000679.2:g.42911258C>G GRCh38
NC_000017.10:g.41063275C>G , CM000679.1:g.41063275C>G GRCh37
NC_000017.9:g.38316801C>G NCBI36
NG_011808.1:g.15461C>G , LRG_147:g.15461C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.906C>G MANE Select ENSP00000253801.1:p.Ser302=
ENST00000253801.6:c.906C>G ENSP00000253801.1:p.Ser302=
ENST00000585489.1:c.*298C>G ENSP00000466202.1:n.*298C>G
ENST00000592383.5:c.*298C>G ENSP00000465958.1:n.*298C>G
NM_000151.3:c.906C>G NP_000142.2:p.Ser302=
NM_001270397.1:c.*298C>G NP_001257326.1:n.*298C>G
NM_000151.4:c.906C>G MANE Select NP_000142.2:p.Ser302=
NM_001270397.2:c.*298C>G NP_001257326.1:n.*298C>G