Canonical Allele Identifier: CA399654657
Gene: G6PC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909305G>T , CM000679.2:g.42909305G>T GRCh38
NC_000017.10:g.41061322G>T , CM000679.1:g.41061322G>T GRCh37
NC_000017.9:g.38314848G>T NCBI36
NG_011808.1:g.13508G>T , LRG_147:g.13508G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.449G>T MANE Select ENSP00000253801.1:p.Cys150Phe
ENST00000253801.6:c.449G>T ENSP00000253801.1:p.Cys150Phe
ENST00000585489.1:c.447-1610G>T ENSP00000466202.1:n.447-1610G>T
ENST00000592383.5:c.372G>T ENSP00000465958.1:p.Val124=
NM_000151.3:c.449G>T NP_000142.2:p.Cys150Phe
NM_001270397.1:c.372G>T NP_001257326.1:p.Val124=
NM_000151.4:c.449G>T MANE Select NP_000142.2:p.Cys150Phe
NM_001270397.2:c.372G>T NP_001257326.1:p.Val124=