Canonical Allele Identifier: CA2260696650
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909362C= , CM000679.2:g.42909362C= GRCh38
NC_000017.10:g.41061379C= , CM000679.1:g.41061379C= GRCh37
NC_000017.9:g.38314905C= NCBI36
NG_011808.1:g.13565C= , LRG_147:g.13565C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.506C= MANE Select ENSP00000253801.1:p.Ser169=
ENST00000253801.6:c.506C= ENSP00000253801.1:p.Ser169=
ENST00000585489.1:c.447-1553C= ENSP00000466202.1:n.447-1553C=
ENST00000592383.5:c.429C= ENSP00000465958.1:p.Val143=
NM_000151.3:c.506C= NP_000142.2:p.Ser169=
NM_001270397.1:c.429C= NP_001257326.1:p.Val143=
NM_000151.4:c.506C= MANE Select NP_000142.2:p.Ser169=
NM_001270397.2:c.429C= NP_001257326.1:p.Val143=