Canonical Allele Identifier: CA341566

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 38300
• ClinVar RCV Id: RCV000020132
• dbSNP Id: rs1801176
• ExAC: 17:41055965 G / A
• gnomAD v2: 17-41055965-G-A
• gnomAD v3: 17-42903948-G-A
• gnomAD v4: 17-42903948-G-A
• MyVariant Identifiers: chr17:g.41055965G>A (hg19) ; chr17:g.42903948G>A (hg38)
• PubMed: PMID:7573034 ; PMID:9001800 ; PMID:10944847 ; PMID:20301489

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42903948G>A , CM000679.2:g.42903948G>A	GRCh38
NC_000017.10:g.41055965G>A , CM000679.1:g.41055965G>A	GRCh37
NC_000017.9:g.38309491G>A	NCBI36
NG_011808.1:g.8151G>A , LRG_147:g.8151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.248G>A MANE Select	ENSP00000253801.1:p.Arg83His
ENST00000253801.6:c.248G>A	ENSP00000253801.1:p.Arg83His
ENST00000585489.1:c.248G>A	ENSP00000466202.1:p.Arg83His
ENST00000588481.1:n.313G>A
ENST00000592383.5:c.248G>A	ENSP00000465958.1:p.Arg83His
NM_000151.3:c.248G>A	NP_000142.2:p.Arg83His
NM_001270397.1:c.248G>A	NP_001257326.1:p.Arg83His
NM_000151.4:c.248G>A MANE Select	NP_000142.2:p.Arg83His
NM_001270397.2:c.248G>A	NP_001257326.1:p.Arg83His