Canonical Allele Identifier: CA399657192
Gene: G6PC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911290A>C , CM000679.2:g.42911290A>C GRCh38
NC_000017.10:g.41063307A>C , CM000679.1:g.41063307A>C GRCh37
NC_000017.9:g.38316833A>C NCBI36
NG_011808.1:g.15493A>C , LRG_147:g.15493A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.938A>C MANE Select ENSP00000253801.1:p.Lys313Thr
ENST00000253801.6:c.938A>C ENSP00000253801.1:p.Lys313Thr
ENST00000585489.1:c.*330A>C ENSP00000466202.1:n.*330A>C
ENST00000592383.5:c.*330A>C ENSP00000465958.1:n.*330A>C
NM_000151.3:c.938A>C NP_000142.2:p.Lys313Thr
NM_001270397.1:c.*330A>C NP_001257326.1:n.*330A>C
NM_000151.4:c.938A>C MANE Select NP_000142.2:p.Lys313Thr
NM_001270397.2:c.*330A>C NP_001257326.1:n.*330A>C