Canonical Allele Identifier: CA399656148
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42911112-G-A
MyVariant Identifiers: chr17:g.41063129G>A (hg19) chr17:g.42911112G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911112G>A , CM000679.2:g.42911112G>A GRCh38
NC_000017.10:g.41063129G>A , CM000679.1:g.41063129G>A GRCh37
NC_000017.9:g.38316655G>A NCBI36
NG_011808.1:g.15315G>A , LRG_147:g.15315G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.760G>A MANE Select ENSP00000253801.1:p.Asp254Asn
ENST00000253801.6:c.760G>A ENSP00000253801.1:p.Asp254Asn
ENST00000585489.1:c.*152G>A ENSP00000466202.1:n.*152G>A
ENST00000592383.5:c.*152G>A ENSP00000465958.1:n.*152G>A
NM_000151.3:c.760G>A NP_000142.2:p.Asp254Asn
NM_001270397.1:c.*152G>A NP_001257326.1:n.*152G>A
NM_000151.4:c.760G>A MANE Select NP_000142.2:p.Asp254Asn
NM_001270397.2:c.*152G>A NP_001257326.1:n.*152G>A
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