Canonical Allele Identifier: CA500229440
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1077509
ClinVar RCV Id: RCV001392089
dbSNP Id: rs2151932408
MyVariant Identifiers: chr17:g.41063368G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911351G>A , CM000679.2:g.42911351G>A GRCh38
NC_000017.10:g.41063368G>A , CM000679.1:g.41063368G>A GRCh37
NC_000017.9:g.38316894G>A NCBI36
NG_011808.1:g.15554G>A , LRG_147:g.15554G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.999G>A MANE Select ENSP00000253801.1:p.Val333=
ENST00000253801.6:c.999G>A ENSP00000253801.1:p.Val333=
ENST00000585489.1:c.*391G>A ENSP00000466202.1:n.*391G>A
NM_000151.3:c.999G>A NP_000142.2:p.Val333=
NM_001270397.1:c.*391G>A NP_001257326.1:n.*391G>A
NM_000151.4:c.999G>A MANE Select NP_000142.2:p.Val333=
NM_001270397.2:c.*391G>A NP_001257326.1:n.*391G>A
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