Canonical Allele Identifier: CA399657722
Gene: G6PC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911383G>T , CM000679.2:g.42911383G>T GRCh38
NC_000017.10:g.41063400G>T , CM000679.1:g.41063400G>T GRCh37
NC_000017.9:g.38316926G>T NCBI36
NG_011808.1:g.15586G>T , LRG_147:g.15586G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1031G>T MANE Select ENSP00000253801.1:p.Cys344Phe
ENST00000253801.6:c.1031G>T ENSP00000253801.1:p.Cys344Phe
ENST00000585489.1:c.*423G>T ENSP00000466202.1:n.*423G>T
NM_000151.3:c.1031G>T NP_000142.2:p.Cys344Phe
NM_001270397.1:c.*423G>T NP_001257326.1:n.*423G>T
NM_000151.4:c.1031G>T MANE Select NP_000142.2:p.Cys344Phe
NM_001270397.2:c.*423G>T NP_001257326.1:n.*423G>T