Canonical Allele Identifier: CA500229418
Gene: G6PC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.41053100C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901083C>T , CM000679.2:g.42901083C>T GRCh38
NC_000017.10:g.41053100C>T , CM000679.1:g.41053100C>T GRCh37
NC_000017.9:g.38306626C>T NCBI36
NG_011808.1:g.5286C>T , LRG_147:g.5286C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.207C>T MANE Select ENSP00000253801.1:p.Asp69=
ENST00000253801.6:c.207C>T ENSP00000253801.1:p.Asp69=
ENST00000585489.1:c.207C>T ENSP00000466202.1:p.Asp69=
ENST00000588481.1:n.272C>T
ENST00000592383.5:c.207C>T ENSP00000465958.1:p.Asp69=
NM_000151.3:c.207C>T NP_000142.2:p.Asp69=
NM_001270397.1:c.207C>T NP_001257326.1:p.Asp69=
NM_000151.4:c.207C>T MANE Select NP_000142.2:p.Asp69=
NM_001270397.2:c.207C>T NP_001257326.1:p.Asp69=