Canonical Allele Identifier: CA399654951
Gene: G6PC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909376G>A , CM000679.2:g.42909376G>A GRCh38
NC_000017.10:g.41061393G>A , CM000679.1:g.41061393G>A GRCh37
NC_000017.9:g.38314919G>A NCBI36
NG_011808.1:g.13579G>A , LRG_147:g.13579G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.520G>A MANE Select ENSP00000253801.1:p.Ala174Thr
ENST00000253801.6:c.520G>A ENSP00000253801.1:p.Ala174Thr
ENST00000585489.1:c.447-1539G>A ENSP00000466202.1:n.447-1539G>A
ENST00000592383.5:c.443G>A ENSP00000465958.1:p.Cys148Tyr
NM_000151.3:c.520G>A NP_000142.2:p.Ala174Thr
NM_001270397.1:c.443G>A NP_001257326.1:p.Cys148Tyr
NM_000151.4:c.520G>A MANE Select NP_000142.2:p.Ala174Thr
NM_001270397.2:c.443G>A NP_001257326.1:p.Cys148Tyr