Canonical Allele Identifier: CA399651547
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42901099-T-C
MyVariant Identifiers: chr17:g.41053116T>C (hg19) chr17:g.42901099T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901099T>C , CM000679.2:g.42901099T>C GRCh38
NC_000017.10:g.41053116T>C , CM000679.1:g.41053116T>C GRCh37
NC_000017.9:g.38306642T>C NCBI36
NG_011808.1:g.5302T>C , LRG_147:g.5302T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.223T>C MANE Select ENSP00000253801.1:p.Phe75Leu
ENST00000253801.6:c.223T>C ENSP00000253801.1:p.Phe75Leu
ENST00000585489.1:c.223T>C ENSP00000466202.1:p.Phe75Leu
ENST00000588481.1:n.288T>C
ENST00000592383.5:c.223T>C ENSP00000465958.1:p.Phe75Leu
NM_000151.3:c.223T>C NP_000142.2:p.Phe75Leu
NM_001270397.1:c.223T>C NP_001257326.1:p.Phe75Leu
NM_000151.4:c.223T>C MANE Select NP_000142.2:p.Phe75Leu
NM_001270397.2:c.223T>C NP_001257326.1:p.Phe75Leu
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