Canonical Allele Identifier: CA626070445

Gene: G6PC1

Linked Data

• dbSNP Id: rs1214349645
• gnomAD v2: 17-41061514-A-C
• gnomAD v3: 17-42909497-A-C
• gnomAD v4: 17-42909497-A-C
• MyVariant Identifiers: chr17:g.41061514A>C (hg19) ; chr17:g.42909497A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909497A>C , CM000679.2:g.42909497A>C	GRCh38
NC_000017.10:g.41061514A>C , CM000679.1:g.41061514A>C	GRCh37
NC_000017.9:g.38315040A>C	NCBI36
NG_011808.1:g.13700A>C , LRG_147:g.13700A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.562+79A>C MANE Select	ENSP00000253801.1:n.562+79A>C
ENST00000253801.6:c.562+79A>C	ENSP00000253801.1:n.562+79A>C
ENST00000585489.1:c.447-1418A>C	ENSP00000466202.1:n.447-1418A>C
ENST00000592383.5:c.485+79A>C	ENSP00000465958.1:n.485+79A>C
NM_000151.3:c.562+79A>C	NP_000142.2:n.562+79A>C
NM_001270397.1:c.485+79A>C	NP_001257326.1:n.485+79A>C
NM_000151.4:c.562+79A>C MANE Select	NP_000142.2:n.562+79A>C
NM_001270397.2:c.485+79A>C	NP_001257326.1:n.485+79A>C