Canonical Allele Identifier: CA500229310
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1682475
ClinVar RCV Id: RCV002239885
dbSNP Id: rs1394010585
gnomAD v2: 17-41052938-A-C
gnomAD v3: 17-42900921-A-C
gnomAD v4: 17-42900921-A-C
MyVariant Identifiers: chr17:g.41052938A>C (hg19) chr17:g.42900921A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42900921A>C , CM000679.2:g.42900921A>C GRCh38
NC_000017.10:g.41052938A>C , CM000679.1:g.41052938A>C GRCh37
NC_000017.9:g.38306464A>C NCBI36
NG_011808.1:g.5124A>C , LRG_147:g.5124A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.45A>C MANE Select ENSP00000253801.1:p.Ser15=
ENST00000253801.6:c.45A>C ENSP00000253801.1:p.Ser15=
ENST00000585489.1:c.45A>C ENSP00000466202.1:p.Ser15=
ENST00000588481.1:n.110A>C
ENST00000592383.5:c.45A>C ENSP00000465958.1:p.Ser15=
NM_000151.3:c.45A>C NP_000142.2:p.Ser15=
NM_001270397.1:c.45A>C NP_001257326.1:p.Ser15=
NM_000151.4:c.45A>C MANE Select NP_000142.2:p.Ser15=
NM_001270397.2:c.45A>C NP_001257326.1:p.Ser15=
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