Canonical Allele Identifier: CA2638041916
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42911478-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911478G>A , CM000679.2:g.42911478G>A GRCh38
NC_000017.10:g.41063495G>A , CM000679.1:g.41063495G>A GRCh37
NC_000017.9:g.38317021G>A NCBI36
NG_011808.1:g.15681G>A , LRG_147:g.15681G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*52G>A MANE Select ENSP00000253801.1:n.*52G>A
ENST00000253801.6:c.*52G>A ENSP00000253801.1:n.*52G>A
ENST00000585489.1:c.*518G>A ENSP00000466202.1:n.*518G>A
NM_000151.3:c.*52G>A NP_000142.2:n.*52G>A
NM_001270397.1:c.*518G>A NP_001257326.1:n.*518G>A
NM_000151.4:c.*52G>A MANE Select NP_000142.2:n.*52G>A
NM_001270397.2:c.*518G>A NP_001257326.1:n.*518G>A
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