Canonical Allele Identifier: CA8587493
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1682480
ClinVar RCV Id: RCV002237079
dbSNP Id: rs781064575
ExAC: 17:41053002 G / A
gnomAD v2: 17-41053002-G-A
gnomAD v3: 17-42900985-G-A
gnomAD v4: 17-42900985-G-A
COSMIC: COSM6229401
MyVariant Identifiers: chr17:g.41053002G>A (hg19) chr17:g.42900985G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42900985G>A , CM000679.2:g.42900985G>A GRCh38
NC_000017.10:g.41053002G>A , CM000679.1:g.41053002G>A GRCh37
NC_000017.9:g.38306528G>A NCBI36
NG_011808.1:g.5188G>A , LRG_147:g.5188G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.109G>A MANE Select ENSP00000253801.1:p.Ala37Thr
ENST00000253801.6:c.109G>A ENSP00000253801.1:p.Ala37Thr
ENST00000585489.1:c.109G>A ENSP00000466202.1:p.Ala37Thr
ENST00000588481.1:n.174G>A
ENST00000592383.5:c.109G>A ENSP00000465958.1:p.Ala37Thr
NM_000151.3:c.109G>A NP_000142.2:p.Ala37Thr
NM_001270397.1:c.109G>A NP_001257326.1:p.Ala37Thr
NM_000151.4:c.109G>A MANE Select NP_000142.2:p.Ala37Thr
NM_001270397.2:c.109G>A NP_001257326.1:p.Ala37Thr
Search 100 bp 5'
Search 100 bp 3'