Canonical Allele Identifier: CA399650927

Gene: G6PC1

Linked Data

• ClinVar Variation Id: 2664192
• ClinVar RCV Id: RCV003445327
• MyVariant Identifiers: chr17:g.41053048A>T (hg19) ; chr17:g.42901031A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42901031A>T , CM000679.2:g.42901031A>T	GRCh38
NC_000017.10:g.41053048A>T , CM000679.1:g.41053048A>T	GRCh37
NC_000017.9:g.38306574A>T	NCBI36
NG_011808.1:g.5234A>T , LRG_147:g.5234A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.155A>T MANE Select	ENSP00000253801.1:p.His52Leu
ENST00000253801.6:c.155A>T	ENSP00000253801.1:p.His52Leu
ENST00000585489.1:c.155A>T	ENSP00000466202.1:p.His52Leu
ENST00000588481.1:n.220A>T
ENST00000592383.5:c.155A>T	ENSP00000465958.1:p.His52Leu
NM_000151.3:c.155A>T	NP_000142.2:p.His52Leu
NM_001270397.1:c.155A>T	NP_001257326.1:p.His52Leu
NM_000151.4:c.155A>T MANE Select	NP_000142.2:p.His52Leu
NM_001270397.2:c.155A>T	NP_001257326.1:p.His52Leu