Canonical Allele Identifier: CA500229799
Gene: G6PC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.41063272C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911255C>A , CM000679.2:g.42911255C>A GRCh38
NC_000017.10:g.41063272C>A , CM000679.1:g.41063272C>A GRCh37
NC_000017.9:g.38316798C>A NCBI36
NG_011808.1:g.15458C>A , LRG_147:g.15458C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.903C>A MANE Select ENSP00000253801.1:p.Ala301=
ENST00000253801.6:c.903C>A ENSP00000253801.1:p.Ala301=
ENST00000585489.1:c.*295C>A ENSP00000466202.1:n.*295C>A
ENST00000592383.5:c.*295C>A ENSP00000465958.1:n.*295C>A
NM_000151.3:c.903C>A NP_000142.2:p.Ala301=
NM_001270397.1:c.*295C>A NP_001257326.1:n.*295C>A
NM_000151.4:c.903C>A MANE Select NP_000142.2:p.Ala301=
NM_001270397.2:c.*295C>A NP_001257326.1:n.*295C>A