Canonical Allele Identifier: CA399657077
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42911277-T-A
MyVariant Identifiers: chr17:g.41063294T>A (hg19) chr17:g.42911277T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911277T>A , CM000679.2:g.42911277T>A GRCh38
NC_000017.10:g.41063294T>A , CM000679.1:g.41063294T>A GRCh37
NC_000017.9:g.38316820T>A NCBI36
NG_011808.1:g.15480T>A , LRG_147:g.15480T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.925T>A MANE Select ENSP00000253801.1:p.Phe309Ile
ENST00000253801.6:c.925T>A ENSP00000253801.1:p.Phe309Ile
ENST00000585489.1:c.*317T>A ENSP00000466202.1:n.*317T>A
ENST00000592383.5:c.*317T>A ENSP00000465958.1:n.*317T>A
NM_000151.3:c.925T>A NP_000142.2:p.Phe309Ile
NM_001270397.1:c.*317T>A NP_001257326.1:n.*317T>A
NM_000151.4:c.925T>A MANE Select NP_000142.2:p.Phe309Ile
NM_001270397.2:c.*317T>A NP_001257326.1:n.*317T>A
Search 100 bp 5'
Search 100 bp 3'