Canonical Allele Identifier: CA399654938
Gene: G6PC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909371A>G , CM000679.2:g.42909371A>G GRCh38
NC_000017.10:g.41061388A>G , CM000679.1:g.41061388A>G GRCh37
NC_000017.9:g.38314914A>G NCBI36
NG_011808.1:g.13574A>G , LRG_147:g.13574A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.515A>G MANE Select ENSP00000253801.1:p.Tyr172Cys
ENST00000253801.6:c.515A>G ENSP00000253801.1:p.Tyr172Cys
ENST00000585489.1:c.447-1544A>G ENSP00000466202.1:n.447-1544A>G
ENST00000592383.5:c.438A>G ENSP00000465958.1:p.Leu146=
NM_000151.3:c.515A>G NP_000142.2:p.Tyr172Cys
NM_001270397.1:c.438A>G NP_001257326.1:p.Leu146=
NM_000151.4:c.515A>G MANE Select NP_000142.2:p.Tyr172Cys
NM_001270397.2:c.438A>G NP_001257326.1:p.Leu146=