Canonical Allele Identifier: CA500229502

Gene: G6PC1

Linked Data

• MyVariant Identifiers: chr17:g.41063407C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911390C>G , CM000679.2:g.42911390C>G	GRCh38
NC_000017.10:g.41063407C>G , CM000679.1:g.41063407C>G	GRCh37
NC_000017.9:g.38316933C>G	NCBI36
NG_011808.1:g.15593C>G , LRG_147:g.15593C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.1038C>G MANE Select	ENSP00000253801.1:p.Ala346=
ENST00000253801.6:c.1038C>G	ENSP00000253801.1:p.Ala346=
ENST00000585489.1:c.*430C>G	ENSP00000466202.1:n.*430C>G
NM_000151.3:c.1038C>G	NP_000142.2:p.Ala346=
NM_001270397.1:c.*430C>G	NP_001257326.1:n.*430C>G
NM_000151.4:c.1038C>G MANE Select	NP_000142.2:p.Ala346=
NM_001270397.2:c.*430C>G	NP_001257326.1:n.*430C>G