Canonical Allele Identifier: CA399654694
Gene: G6PC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909314T>A , CM000679.2:g.42909314T>A GRCh38
NC_000017.10:g.41061331T>A , CM000679.1:g.41061331T>A GRCh37
NC_000017.9:g.38314857T>A NCBI36
NG_011808.1:g.13517T>A , LRG_147:g.13517T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.458T>A MANE Select ENSP00000253801.1:p.Val153Asp
ENST00000253801.6:c.458T>A ENSP00000253801.1:p.Val153Asp
ENST00000585489.1:c.447-1601T>A ENSP00000466202.1:n.447-1601T>A
ENST00000592383.5:c.381T>A ENSP00000465958.1:p.Cys127Ter
NM_000151.3:c.458T>A NP_000142.2:p.Val153Asp
NM_001270397.1:c.381T>A NP_001257326.1:p.Cys127Ter
NM_000151.4:c.458T>A MANE Select NP_000142.2:p.Val153Asp
NM_001270397.2:c.381T>A NP_001257326.1:p.Cys127Ter