Canonical Allele Identifier: CA321240
Community Standard Title: NM_000151.4(G6PC1):c.910G>A (p.Val304Ile)
Gene: G6PC1 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000151.4:c.910G>A MANE Select NP_000142.2:p.Val304Ile
ENST00000253801.7:c.910G>A MANE Select ENSP00000253801.1:p.Val304Ile
NM_000151.3:c.910G>A NP_000142.2:p.Val304Ile
NM_001270397.1:c.*302G>A NP_001257326.1:n.*302G>A
NM_001270397.2:c.*302G>A NP_001257326.1:n.*302G>A
ENST00000253801.6:c.910G>A ENSP00000253801.1:p.Val304Ile
ENST00000585489.1:c.*302G>A ENSP00000466202.1:n.*302G>A
ENST00000592383.5:c.*302G>A ENSP00000465958.1:n.*302G>A
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