Canonical Allele Identifier: CA290790055
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs993458406

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911229C>G , CM000679.2:g.42911229C>G GRCh38
NC_000017.10:g.41063246C>G , CM000679.1:g.41063246C>G GRCh37
NC_000017.9:g.38316772C>G NCBI36
NG_011808.1:g.15432C>G , LRG_147:g.15432C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.877C>G MANE Select ENSP00000253801.1:p.Pro293Ala
ENST00000253801.6:c.877C>G ENSP00000253801.1:p.Pro293Ala
ENST00000585489.1:c.*269C>G ENSP00000466202.1:n.*269C>G
ENST00000592383.5:c.*269C>G ENSP00000465958.1:n.*269C>G
NM_000151.3:c.877C>G NP_000142.2:p.Pro293Ala
NM_001270397.1:c.*269C>G NP_001257326.1:n.*269C>G
NM_000151.4:c.877C>G MANE Select NP_000142.2:p.Pro293Ala
NM_001270397.2:c.*269C>G NP_001257326.1:n.*269C>G