Canonical Allele Identifier: CA2638041907
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42911471-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911471G>A , CM000679.2:g.42911471G>A GRCh38
NC_000017.10:g.41063488G>A , CM000679.1:g.41063488G>A GRCh37
NC_000017.9:g.38317014G>A NCBI36
NG_011808.1:g.15674G>A , LRG_147:g.15674G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*45G>A MANE Select ENSP00000253801.1:n.*45G>A
ENST00000253801.6:c.*45G>A ENSP00000253801.1:n.*45G>A
ENST00000585489.1:c.*511G>A ENSP00000466202.1:n.*511G>A
NM_000151.3:c.*45G>A NP_000142.2:n.*45G>A
NM_001270397.1:c.*511G>A NP_001257326.1:n.*511G>A
NM_000151.4:c.*45G>A MANE Select NP_000142.2:n.*45G>A
NM_001270397.2:c.*511G>A NP_001257326.1:n.*511G>A
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