Canonical Allele Identifier: CA399655804
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42911035-A-G
MyVariant Identifiers: chr17:g.41063052A>G (hg19) chr17:g.42911035A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911035A>G , CM000679.2:g.42911035A>G GRCh38
NC_000017.10:g.41063052A>G , CM000679.1:g.41063052A>G GRCh37
NC_000017.9:g.38316578A>G NCBI36
NG_011808.1:g.15238A>G , LRG_147:g.15238A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.683A>G MANE Select ENSP00000253801.1:p.Lys228Arg
ENST00000253801.6:c.683A>G ENSP00000253801.1:p.Lys228Arg
ENST00000585489.1:c.*75A>G ENSP00000466202.1:n.*75A>G
ENST00000592383.5:c.*75A>G ENSP00000465958.1:n.*75A>G
NM_000151.3:c.683A>G NP_000142.2:p.Lys228Arg
NM_001270397.1:c.*75A>G NP_001257326.1:n.*75A>G
NM_000151.4:c.683A>G MANE Select NP_000142.2:p.Lys228Arg
NM_001270397.2:c.*75A>G NP_001257326.1:n.*75A>G
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