Canonical Allele Identifier: CA399655036
Gene: G6PC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909407G>C , CM000679.2:g.42909407G>C GRCh38
NC_000017.10:g.41061424G>C , CM000679.1:g.41061424G>C GRCh37
NC_000017.9:g.38314950G>C NCBI36
NG_011808.1:g.13610G>C , LRG_147:g.13610G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.551G>C MANE Select ENSP00000253801.1:p.Gly184Ala
ENST00000253801.6:c.551G>C ENSP00000253801.1:p.Gly184Ala
ENST00000585489.1:c.447-1508G>C ENSP00000466202.1:n.447-1508G>C
ENST00000592383.5:c.474G>C ENSP00000465958.1:p.Trp158Cys
NM_000151.3:c.551G>C NP_000142.2:p.Gly184Ala
NM_001270397.1:c.474G>C NP_001257326.1:p.Trp158Cys
NM_000151.4:c.551G>C MANE Select NP_000142.2:p.Gly184Ala
NM_001270397.2:c.474G>C NP_001257326.1:p.Trp158Cys