Canonical Allele Identifier: CA8587720
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs372909414
ExAC: 17:41063469 A / G
gnomAD v2: 17-41063469-A-G
gnomAD v3: 17-42911452-A-G
gnomAD v4: 17-42911452-A-G
MyVariant Identifiers: chr17:g.41063469A>G (hg19) chr17:g.42911452A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911452A>G , CM000679.2:g.42911452A>G GRCh38
NC_000017.10:g.41063469A>G , CM000679.1:g.41063469A>G GRCh37
NC_000017.9:g.38316995A>G NCBI36
NG_011808.1:g.15655A>G , LRG_147:g.15655A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*26A>G MANE Select ENSP00000253801.1:n.*26A>G
ENST00000253801.6:c.*26A>G ENSP00000253801.1:n.*26A>G
ENST00000585489.1:c.*492A>G ENSP00000466202.1:n.*492A>G
NM_000151.3:c.*26A>G NP_000142.2:n.*26A>G
NM_001270397.1:c.*492A>G NP_001257326.1:n.*492A>G
NM_000151.4:c.*26A>G MANE Select NP_000142.2:n.*26A>G
NM_001270397.2:c.*492A>G NP_001257326.1:n.*492A>G
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