Canonical Allele Identifier: CA399651017

Gene: G6PC1

Linked Data

• dbSNP Id: rs1181764519
• gnomAD v3: 17-42901042-G-A
• gnomAD v4: 17-42901042-G-A
• MyVariant Identifiers: chr17:g.41053059G>A (hg19) ; chr17:g.42901042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901042G>A , CM000679.2:g.42901042G>A	GRCh38
NC_000017.10:g.41053059G>A , CM000679.1:g.41053059G>A	GRCh37
NC_000017.9:g.38306585G>A	NCBI36
NG_011808.1:g.5245G>A , LRG_147:g.5245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.166G>A MANE Select	ENSP00000253801.1:p.Ala56Thr
ENST00000253801.6:c.166G>A	ENSP00000253801.1:p.Ala56Thr
ENST00000585489.1:c.166G>A	ENSP00000466202.1:p.Ala56Thr
ENST00000588481.1:n.231G>A
ENST00000592383.5:c.166G>A	ENSP00000465958.1:p.Ala56Thr
NM_000151.3:c.166G>A	NP_000142.2:p.Ala56Thr
NM_001270397.1:c.166G>A	NP_001257326.1:p.Ala56Thr
NM_000151.4:c.166G>A MANE Select	NP_000142.2:p.Ala56Thr
NM_001270397.2:c.166G>A	NP_001257326.1:p.Ala56Thr