Canonical Allele Identifier: CA399656638
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42911208-G-C
MyVariant Identifiers: chr17:g.41063225G>C (hg19) chr17:g.42911208G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911208G>C , CM000679.2:g.42911208G>C GRCh38
NC_000017.10:g.41063225G>C , CM000679.1:g.41063225G>C GRCh37
NC_000017.9:g.38316751G>C NCBI36
NG_011808.1:g.15411G>C , LRG_147:g.15411G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.856G>C MANE Select ENSP00000253801.1:p.Gly286Arg
ENST00000253801.6:c.856G>C ENSP00000253801.1:p.Gly286Arg
ENST00000585489.1:c.*248G>C ENSP00000466202.1:n.*248G>C
ENST00000592383.5:c.*248G>C ENSP00000465958.1:n.*248G>C
NM_000151.3:c.856G>C NP_000142.2:p.Gly286Arg
NM_001270397.1:c.*248G>C NP_001257326.1:n.*248G>C
NM_000151.4:c.856G>C MANE Select NP_000142.2:p.Gly286Arg
NM_001270397.2:c.*248G>C NP_001257326.1:n.*248G>C
Search 100 bp 5'
Search 100 bp 3'