Canonical Allele Identifier: CA8587669
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1682529
ClinVar RCV Id: RCV002237510
dbSNP Id: rs375212414

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911236G>A , CM000679.2:g.42911236G>A GRCh38
NC_000017.10:g.41063253G>A , CM000679.1:g.41063253G>A GRCh37
NC_000017.9:g.38316779G>A NCBI36
NG_011808.1:g.15439G>A , LRG_147:g.15439G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.884G>A MANE Select ENSP00000253801.1:p.Arg295His
ENST00000253801.6:c.884G>A ENSP00000253801.1:p.Arg295His
ENST00000585489.1:c.*276G>A ENSP00000466202.1:n.*276G>A
ENST00000592383.5:c.*276G>A ENSP00000465958.1:n.*276G>A
NM_000151.3:c.884G>A NP_000142.2:p.Arg295His
NM_001270397.1:c.*276G>A NP_001257326.1:n.*276G>A
NM_000151.4:c.884G>A MANE Select NP_000142.2:p.Arg295His
NM_001270397.2:c.*276G>A NP_001257326.1:n.*276G>A