Canonical Allele Identifier: CA2260697462
Gene: G6PC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911262G= , CM000679.2:g.42911262G= GRCh38
NC_000017.10:g.41063279G= , CM000679.1:g.41063279G= GRCh37
NC_000017.9:g.38316805G= NCBI36
NG_011808.1:g.15465G= , LRG_147:g.15465G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.910G= MANE Select ENSP00000253801.1:p.Val304=
ENST00000253801.6:c.910G= ENSP00000253801.1:p.Val304=
ENST00000585489.1:c.*302G= ENSP00000466202.1:n.*302G=
ENST00000592383.5:c.*302G= ENSP00000465958.1:n.*302G=
NM_000151.3:c.910G= NP_000142.2:p.Val304=
NM_001270397.1:c.*302G= NP_001257326.1:n.*302G=
NM_000151.4:c.910G= MANE Select NP_000142.2:p.Val304=
NM_001270397.2:c.*302G= NP_001257326.1:n.*302G=
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