Canonical Allele Identifier: CA772151006
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs1455092796
gnomAD v3: 17-42911490-T-G
gnomAD v4: 17-42911490-T-G
MyVariant Identifiers: chr17:g.41063507T>G (hg19) chr17:g.42911490T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911490T>G , CM000679.2:g.42911490T>G GRCh38
NC_000017.10:g.41063507T>G , CM000679.1:g.41063507T>G GRCh37
NC_000017.9:g.38317033T>G NCBI36
NG_011808.1:g.15693T>G , LRG_147:g.15693T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*64T>G MANE Select ENSP00000253801.1:n.*64T>G
ENST00000253801.6:c.*64T>G ENSP00000253801.1:n.*64T>G
NM_000151.3:c.*64T>G NP_000142.2:n.*64T>G
NM_001270397.1:c.*530T>G NP_001257326.1:n.*530T>G
NM_000151.4:c.*64T>G MANE Select NP_000142.2:n.*64T>G
NM_001270397.2:c.*530T>G NP_001257326.1:n.*530T>G
Search 100 bp 5'
Search 100 bp 3'