Canonical Allele Identifier: CA290785222

Gene: G6PC1

Linked Data

• dbSNP Id: rs1051317287
• gnomAD v3: 17-42903870-G-A
• gnomAD v4: 17-42903870-G-A
• MyVariant Identifiers: chr17:g.41055887G>A (hg19) ; chr17:g.42903870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42903870G>A , CM000679.2:g.42903870G>A	GRCh38
NC_000017.10:g.41055887G>A , CM000679.1:g.41055887G>A	GRCh37
NC_000017.9:g.38309413G>A	NCBI36
NG_011808.1:g.8073G>A , LRG_147:g.8073G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.231-61G>A MANE Select	ENSP00000253801.1:n.231-61G>A
ENST00000253801.6:c.231-61G>A	ENSP00000253801.1:n.231-61G>A
ENST00000585489.1:c.231-61G>A	ENSP00000466202.1:n.231-61G>A
ENST00000588481.1:n.296-61G>A
ENST00000592383.5:c.231-61G>A	ENSP00000465958.1:n.231-61G>A
NM_000151.3:c.231-61G>A	NP_000142.2:n.231-61G>A
NM_001270397.1:c.231-61G>A	NP_001257326.1:n.231-61G>A
NM_000151.4:c.231-61G>A MANE Select	NP_000142.2:n.231-61G>A
NM_001270397.2:c.231-61G>A	NP_001257326.1:n.231-61G>A