Canonical Allele Identifier: CA2260697502
Gene: G6PC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911359C= , CM000679.2:g.42911359C= GRCh38
NC_000017.10:g.41063376C= , CM000679.1:g.41063376C= GRCh37
NC_000017.9:g.38316902C= NCBI36
NG_011808.1:g.15562C= , LRG_147:g.15562C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1007C= MANE Select ENSP00000253801.1:p.Ala336=
ENST00000253801.6:c.1007C= ENSP00000253801.1:p.Ala336=
ENST00000585489.1:c.*399C= ENSP00000466202.1:n.*399C=
NM_000151.3:c.1007C= NP_000142.2:p.Ala336=
NM_001270397.1:c.*399C= NP_001257326.1:n.*399C=
NM_000151.4:c.1007C= MANE Select NP_000142.2:p.Ala336=
NM_001270397.2:c.*399C= NP_001257326.1:n.*399C=
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