Canonical Allele Identifier: CA8587513

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 1321744
• ClinVar RCV Id: RCV001779836
• dbSNP Id: rs9899535
• ExAC: 17:41053153 A / G
• gnomAD v2: 17-41053153-A-G
• gnomAD v3: 17-42901136-A-G
• gnomAD v4: 17-42901136-A-G
• MyVariant Identifiers: chr17:g.41053153A>G (hg19) ; chr17:g.42901136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901136A>G , CM000679.2:g.42901136A>G	GRCh38
NC_000017.10:g.41053153A>G , CM000679.1:g.41053153A>G	GRCh37
NC_000017.9:g.38306679A>G	NCBI36
NG_011808.1:g.5339A>G , LRG_147:g.5339A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.230+30A>G MANE Select	ENSP00000253801.1:n.230+30A>G
ENST00000253801.6:c.230+30A>G	ENSP00000253801.1:n.230+30A>G
ENST00000585489.1:c.230+30A>G	ENSP00000466202.1:n.230+30A>G
ENST00000588481.1:n.295+30A>G
ENST00000592383.5:c.230+30A>G	ENSP00000465958.1:n.230+30A>G
NM_000151.3:c.230+30A>G	NP_000142.2:n.230+30A>G
NM_001270397.1:c.230+30A>G	NP_001257326.1:n.230+30A>G
NM_000151.4:c.230+30A>G MANE Select	NP_000142.2:n.230+30A>G
NM_001270397.2:c.230+30A>G	NP_001257326.1:n.230+30A>G