Canonical Allele Identifier: CA2260697531
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911411C= , CM000679.2:g.42911411C= GRCh38
NC_000017.10:g.41063428C= , CM000679.1:g.41063428C= GRCh37
NC_000017.9:g.38316954C= NCBI36
NG_011808.1:g.15614C= , LRG_147:g.15614C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1059C= MANE Select ENSP00000253801.1:p.His353=
ENST00000253801.6:c.1059C= ENSP00000253801.1:p.His353=
ENST00000585489.1:c.*451C= ENSP00000466202.1:n.*451C=
NM_000151.3:c.1059C= NP_000142.2:p.His353=
NM_001270397.1:c.*451C= NP_001257326.1:n.*451C=
NM_000151.4:c.1059C= MANE Select NP_000142.2:p.His353=
NM_001270397.2:c.*451C= NP_001257326.1:n.*451C=