Canonical Allele Identifier: CA2594127726
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs2151932460
gnomAD v3: 17-42911445-T-C
gnomAD v4: 17-42911445-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911445T>C , CM000679.2:g.42911445T>C GRCh38
NC_000017.10:g.41063462T>C , CM000679.1:g.41063462T>C GRCh37
NC_000017.9:g.38316988T>C NCBI36
NG_011808.1:g.15648T>C , LRG_147:g.15648T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*19T>C MANE Select ENSP00000253801.1:n.*19T>C
ENST00000253801.6:c.*19T>C ENSP00000253801.1:n.*19T>C
ENST00000585489.1:c.*485T>C ENSP00000466202.1:n.*485T>C
NM_000151.3:c.*19T>C NP_000142.2:n.*19T>C
NM_001270397.1:c.*485T>C NP_001257326.1:n.*485T>C
NM_000151.4:c.*19T>C MANE Select NP_000142.2:n.*19T>C
NM_001270397.2:c.*485T>C NP_001257326.1:n.*485T>C
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