Canonical Allele Identifier: CA2576281050
Gene: G6PC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911483C>T , CM000679.2:g.42911483C>T GRCh38
NC_000017.10:g.41063500C>T , CM000679.1:g.41063500C>T GRCh37
NC_000017.9:g.38317026C>T NCBI36
NG_011808.1:g.15686C>T , LRG_147:g.15686C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*57C>T MANE Select ENSP00000253801.1:n.*57C>T
ENST00000253801.6:c.*57C>T ENSP00000253801.1:n.*57C>T
ENST00000585489.1:c.*523C>T ENSP00000466202.1:n.*523C>T
NM_000151.3:c.*57C>T NP_000142.2:n.*57C>T
NM_001270397.1:c.*523C>T NP_001257326.1:n.*523C>T
NM_000151.4:c.*57C>T MANE Select NP_000142.2:n.*57C>T
NM_001270397.2:c.*523C>T NP_001257326.1:n.*523C>T