Canonical Allele Identifier: CA399656144
Gene: G6PC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.41063128T>G (hg19) chr17:g.42911111T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911111T>G , CM000679.2:g.42911111T>G GRCh38
NC_000017.10:g.41063128T>G , CM000679.1:g.41063128T>G GRCh37
NC_000017.9:g.38316654T>G NCBI36
NG_011808.1:g.15314T>G , LRG_147:g.15314T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.759T>G MANE Select ENSP00000253801.1:p.Ile253Met
ENST00000253801.6:c.759T>G ENSP00000253801.1:p.Ile253Met
ENST00000585489.1:c.*151T>G ENSP00000466202.1:n.*151T>G
ENST00000592383.5:c.*151T>G ENSP00000465958.1:n.*151T>G
NM_000151.3:c.759T>G NP_000142.2:p.Ile253Met
NM_001270397.1:c.*151T>G NP_001257326.1:n.*151T>G
NM_000151.4:c.759T>G MANE Select NP_000142.2:p.Ile253Met
NM_001270397.2:c.*151T>G NP_001257326.1:n.*151T>G
Search 100 bp 5'
Search 100 bp 3'