Canonical Allele Identifier: CA2260697463

Gene: G6PC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911265C= , CM000679.2:g.42911265C=	GRCh38
NC_000017.10:g.41063282C= , CM000679.1:g.41063282C=	GRCh37
NC_000017.9:g.38316808C=	NCBI36
NG_011808.1:g.15468C= , LRG_147:g.15468C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.913C= MANE Select	ENSP00000253801.1:p.Leu305=
ENST00000253801.6:c.913C=	ENSP00000253801.1:p.Leu305=
ENST00000585489.1:c.*305C=	ENSP00000466202.1:n.*305C=
ENST00000592383.5:c.*305C=	ENSP00000465958.1:n.*305C=
NM_000151.3:c.913C=	NP_000142.2:p.Leu305=
NM_001270397.1:c.*305C=	NP_001257326.1:n.*305C=
NM_000151.4:c.913C= MANE Select	NP_000142.2:p.Leu305=
NM_001270397.2:c.*305C=	NP_001257326.1:n.*305C=