Canonical Allele Identifier: CA500229311

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 1103192
• ClinVar RCV Id: RCV001426778
• dbSNP Id: rs1394010585
• MyVariant Identifiers: chr17:g.41052938A>G (hg19)

Genomic Alleles

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

Transcript Alleles

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