Canonical Allele Identifier: CA273945
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188777
dbSNP Id: rs780226142

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911321C>A , CM000679.2:g.42911321C>A GRCh38
NC_000017.10:g.41063338C>A , CM000679.1:g.41063338C>A GRCh37
NC_000017.9:g.38316864C>A NCBI36
NG_011808.1:g.15524C>A , LRG_147:g.15524C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.969C>A MANE Select ENSP00000253801.1:p.Tyr323Ter
ENST00000253801.6:c.969C>A ENSP00000253801.1:p.Tyr323Ter
ENST00000585489.1:c.*361C>A ENSP00000466202.1:n.*361C>A
ENST00000592383.5:c.*361C>A ENSP00000465958.1:n.*361C>A
NM_000151.3:c.969C>A NP_000142.2:p.Tyr323Ter
NM_001270397.1:c.*361C>A NP_001257326.1:n.*361C>A
NM_000151.4:c.969C>A MANE Select NP_000142.2:p.Tyr323Ter
NM_001270397.2:c.*361C>A NP_001257326.1:n.*361C>A