Canonical Allele Identifier: CA500229788
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42911246-T-G
MyVariant Identifiers: chr17:g.41063263T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911246T>G , CM000679.2:g.42911246T>G GRCh38
NC_000017.10:g.41063263T>G , CM000679.1:g.41063263T>G GRCh37
NC_000017.9:g.38316789T>G NCBI36
NG_011808.1:g.15449T>G , LRG_147:g.15449T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.894T>G MANE Select ENSP00000253801.1:p.Ser298=
ENST00000253801.6:c.894T>G ENSP00000253801.1:p.Ser298=
ENST00000585489.1:c.*286T>G ENSP00000466202.1:n.*286T>G
ENST00000592383.5:c.*286T>G ENSP00000465958.1:n.*286T>G
NM_000151.3:c.894T>G NP_000142.2:p.Ser298=
NM_001270397.1:c.*286T>G NP_001257326.1:n.*286T>G
NM_000151.4:c.894T>G MANE Select NP_000142.2:p.Ser298=
NM_001270397.2:c.*286T>G NP_001257326.1:n.*286T>G
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