Canonical Allele Identifier: CA399727432

Gene: G6PC3

Linked Data

• dbSNP Id: rs2050071597
• gnomAD v4: 17-44075336-C-G
• MyVariant Identifiers: chr17:g.42152704C>G (hg19) ; chr17:g.44075336C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075336C>G , CM000679.2:g.44075336C>G	GRCh38
NC_000017.10:g.42152704C>G , CM000679.1:g.42152704C>G	GRCh37
NC_000017.9:g.39508230C>G	NCBI36
NG_015818.1:g.9607C>G , LRG_182:g.9607C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*399C>G	ENSP00000466983.1:n.*399C>G
ENST00000588558.6:c.*537C>G	ENSP00000467624.1:n.*537C>G
ENST00000590253.3:c.443C>G	ENSP00000465111.2:p.Ser148Cys
ENST00000593115.2:c.*583C>G	ENSP00000466821.1:n.*583C>G
ENST00000696383.1:c.217C>G	ENSP00000512593.1:p.Pro73Ala
ENST00000696384.1:c.*122C>G	ENSP00000512594.1:n.*122C>G
ENST00000696385.1:c.*280C>G	ENSP00000512595.1:n.*280C>G
ENST00000696386.1:c.245C>G	ENSP00000512596.1:p.Ser82Cys
ENST00000696387.1:c.*189C>G	ENSP00000512597.1:n.*189C>G
ENST00000696388.1:c.*408C>G	ENSP00000512598.1:n.*408C>G
ENST00000696389.1:c.*593C>G	ENSP00000512599.1:n.*593C>G
ENST00000696390.1:c.352C>G	ENSP00000512600.1:p.Pro118Ala
ENST00000696391.1:c.*418C>G	ENSP00000512601.1:n.*418C>G
ENST00000696392.1:c.562C>G	ENSP00000512602.1:p.Pro188Ala
ENST00000696393.1:c.562C>G	ENSP00000512603.1:p.Pro188Ala
ENST00000696405.1:c.562C>G	ENSP00000512607.1:p.Pro188Ala
ENST00000269097.9:c.562C>G MANE Select	ENSP00000269097.3:p.Pro188Ala
ENST00000269097.8:c.562C>G	ENSP00000269097.3:p.Pro188Ala
ENST00000585361.5:c.*399C>G	ENSP00000466983.1:n.*399C>G
ENST00000588558.5:c.*537C>G	ENSP00000467624.1:n.*537C>G
ENST00000590253.2:c.64C>G
ENST00000590639.1:n.583C>G
ENST00000591696.1:c.454C>G	ENSP00000468677.1:p.Pro152Ala
NM_138387.3:c.562C>G , LRG_182t1:c.562C>G	NP_612396.1:p.Pro188Ala
NR_028581.1:n.992C>G
NR_028582.1:n.857C>G
XM_006722179.2:c.443C>G	XP_006722242.1:p.Ser148Cys
XM_011525473.1:c.217C>G	XP_011523775.1:p.Pro73Ala
XM_011525474.1:c.217C>G	XP_011523776.1:p.Pro73Ala
NM_001319945.1:c.443C>G	NP_001306874.1:p.Ser148Cys
XM_011525473.3:c.217C>G	XP_011523775.1:p.Pro73Ala
XM_011525474.3:c.217C>G	XP_011523776.1:p.Pro73Ala
XM_017025335.2:c.217C>G	XP_016880824.1:p.Pro73Ala
NM_001319945.2:c.443C>G	NP_001306874.1:p.Ser148Cys
NR_028581.2:n.811C>G
NR_028582.2:n.676C>G
NM_001384165.1:c.217C>G	NP_001371094.1:p.Pro73Ala
NM_001384166.1:c.217C>G	NP_001371095.1:p.Pro73Ala
NM_001384167.1:c.217C>G	NP_001371096.1:p.Pro73Ala
NM_001384168.1:c.217C>G	NP_001371097.1:p.Pro73Ala
NM_138387.4:c.562C>G MANE Select	NP_612396.1:p.Pro188Ala