Canonical Allele Identifier: CA983865592

Gene: G6PC1

Linked Data

• dbSNP Id: rs2056023725
• gnomAD v3: 17-42901146-C-G
• gnomAD v4: 17-42901146-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901146C>G , CM000679.2:g.42901146C>G	GRCh38
NC_000017.10:g.41053163C>G , CM000679.1:g.41053163C>G	GRCh37
NC_000017.9:g.38306689C>G	NCBI36
NG_011808.1:g.5349C>G , LRG_147:g.5349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.230+40C>G MANE Select	ENSP00000253801.1:n.230+40C>G
ENST00000253801.6:c.230+40C>G	ENSP00000253801.1:n.230+40C>G
ENST00000585489.1:c.230+40C>G	ENSP00000466202.1:n.230+40C>G
ENST00000588481.1:n.295+40C>G
ENST00000592383.5:c.230+40C>G	ENSP00000465958.1:n.230+40C>G
NM_000151.3:c.230+40C>G	NP_000142.2:n.230+40C>G
NM_001270397.1:c.230+40C>G	NP_001257326.1:n.230+40C>G
NM_000151.4:c.230+40C>G MANE Select	NP_000142.2:n.230+40C>G
NM_001270397.2:c.230+40C>G	NP_001257326.1:n.230+40C>G