Canonical Allele Identifier: CA2260692994

Gene: G6PC1

Linked Data

• dbSNP Id: rs574186730
• gnomAD v3: 17-42901222-T-A
• gnomAD v4: 17-42901222-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901222T>A , CM000679.2:g.42901222T>A	GRCh38
NC_000017.10:g.41053239T>A , CM000679.1:g.41053239T>A	GRCh37
NC_000017.9:g.38306765T>A	NCBI36
NG_011808.1:g.5425T>A , LRG_147:g.5425T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.230+116T>A MANE Select	ENSP00000253801.1:n.230+116T>A
ENST00000253801.6:c.230+116T>A	ENSP00000253801.1:n.230+116T>A
ENST00000585489.1:c.230+116T>A	ENSP00000466202.1:n.230+116T>A
ENST00000588481.1:n.295+116T>A
ENST00000592383.5:c.230+116T>A	ENSP00000465958.1:n.230+116T>A
NM_000151.3:c.230+116T>A	NP_000142.2:n.230+116T>A
NM_001270397.1:c.230+116T>A	NP_001257326.1:n.230+116T>A
NM_000151.4:c.230+116T>A MANE Select	NP_000142.2:n.230+116T>A
NM_001270397.2:c.230+116T>A	NP_001257326.1:n.230+116T>A