Canonical Allele Identifier: CA399655744
Gene: G6PC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911016G>C , CM000679.2:g.42911016G>C GRCh38
NC_000017.10:g.41063033G>C , CM000679.1:g.41063033G>C GRCh37
NC_000017.9:g.38316559G>C NCBI36
NG_011808.1:g.15219G>C , LRG_147:g.15219G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.664G>C MANE Select ENSP00000253801.1:p.Gly222Arg
ENST00000253801.6:c.664G>C ENSP00000253801.1:p.Gly222Arg
ENST00000585489.1:c.*56G>C ENSP00000466202.1:n.*56G>C
ENST00000592383.5:c.*56G>C ENSP00000465958.1:n.*56G>C
NM_000151.3:c.664G>C NP_000142.2:p.Gly222Arg
NM_001270397.1:c.*56G>C NP_001257326.1:n.*56G>C
NM_000151.4:c.664G>C MANE Select NP_000142.2:p.Gly222Arg
NM_001270397.2:c.*56G>C NP_001257326.1:n.*56G>C