Canonical Allele Identifier: CA290785335

Gene: G6PC1

Linked Data

• dbSNP Id: rs1022981580
• gnomAD v3: 17-42903954-A-G
• gnomAD v4: 17-42903954-A-G
• MyVariant Identifiers: chr17:g.41055971A>G (hg19) ; chr17:g.42903954A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42903954A>G , CM000679.2:g.42903954A>G	GRCh38
NC_000017.10:g.41055971A>G , CM000679.1:g.41055971A>G	GRCh37
NC_000017.9:g.38309497A>G	NCBI36
NG_011808.1:g.8157A>G , LRG_147:g.8157A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.254A>G MANE Select	ENSP00000253801.1:p.Tyr85Cys
ENST00000253801.6:c.254A>G	ENSP00000253801.1:p.Tyr85Cys
ENST00000585489.1:c.254A>G	ENSP00000466202.1:p.Tyr85Cys
ENST00000588481.1:n.319A>G
ENST00000592383.5:c.254A>G	ENSP00000465958.1:p.Tyr85Cys
NM_000151.3:c.254A>G	NP_000142.2:p.Tyr85Cys
NM_001270397.1:c.254A>G	NP_001257326.1:p.Tyr85Cys
NM_000151.4:c.254A>G MANE Select	NP_000142.2:p.Tyr85Cys
NM_001270397.2:c.254A>G	NP_001257326.1:p.Tyr85Cys