Canonical Allele Identifier: CA2260697478
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911303A= , CM000679.2:g.42911303A= GRCh38
NC_000017.10:g.41063320A= , CM000679.1:g.41063320A= GRCh37
NC_000017.9:g.38316846A= NCBI36
NG_011808.1:g.15506A= , LRG_147:g.15506A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.951A= MANE Select ENSP00000253801.1:p.Gln317=
ENST00000253801.6:c.951A= ENSP00000253801.1:p.Gln317=
ENST00000585489.1:c.*343A= ENSP00000466202.1:n.*343A=
ENST00000592383.5:c.*343A= ENSP00000465958.1:n.*343A=
NM_000151.3:c.951A= NP_000142.2:p.Gln317=
NM_001270397.1:c.*343A= NP_001257326.1:n.*343A=
NM_000151.4:c.951A= MANE Select NP_000142.2:p.Gln317=
NM_001270397.2:c.*343A= NP_001257326.1:n.*343A=