Canonical Allele Identifier: CA2260697468

Gene: G6PC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911282C= , CM000679.2:g.42911282C=	GRCh38
NC_000017.10:g.41063299C= , CM000679.1:g.41063299C=	GRCh37
NC_000017.9:g.38316825C=	NCBI36
NG_011808.1:g.15485C= , LRG_147:g.15485C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.930C= MANE Select	ENSP00000253801.1:p.Asp310=
ENST00000253801.6:c.930C=	ENSP00000253801.1:p.Asp310=
ENST00000585489.1:c.*322C=	ENSP00000466202.1:n.*322C=
ENST00000592383.5:c.*322C=	ENSP00000465958.1:n.*322C=
NM_000151.3:c.930C=	NP_000142.2:p.Asp310=
NM_001270397.1:c.*322C=	NP_001257326.1:n.*322C=
NM_000151.4:c.930C= MANE Select	NP_000142.2:p.Asp310=
NM_001270397.2:c.*322C=	NP_001257326.1:n.*322C=