Canonical Allele Identifier: CA399657783
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs1227042878

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911392A>G , CM000679.2:g.42911392A>G GRCh38
NC_000017.10:g.41063409A>G , CM000679.1:g.41063409A>G GRCh37
NC_000017.9:g.38316935A>G NCBI36
NG_011808.1:g.15595A>G , LRG_147:g.15595A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1040A>G MANE Select ENSP00000253801.1:p.Gln347Arg
ENST00000253801.6:c.1040A>G ENSP00000253801.1:p.Gln347Arg
ENST00000585489.1:c.*432A>G ENSP00000466202.1:n.*432A>G
NM_000151.3:c.1040A>G NP_000142.2:p.Gln347Arg
NM_001270397.1:c.*432A>G NP_001257326.1:n.*432A>G
NM_000151.4:c.1040A>G MANE Select NP_000142.2:p.Gln347Arg
NM_001270397.2:c.*432A>G NP_001257326.1:n.*432A>G