Canonical Allele Identifier: CA399727327

Gene: G6PC3

Linked Data

• dbSNP Id: rs1250371923
• gnomAD v4: 17-44075321-G-A
• MyVariant Identifiers: chr17:g.42152689G>A (hg19) ; chr17:g.44075321G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075321G>A , CM000679.2:g.44075321G>A	GRCh38
NC_000017.10:g.42152689G>A , CM000679.1:g.42152689G>A	GRCh37
NC_000017.9:g.39508215G>A	NCBI36
NG_015818.1:g.9592G>A , LRG_182:g.9592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*384G>A	ENSP00000466983.1:n.*384G>A
ENST00000588558.6:c.*522G>A	ENSP00000467624.1:n.*522G>A
ENST00000590253.3:c.428G>A	ENSP00000465111.2:p.Gly143Glu
ENST00000593115.2:c.*568G>A	ENSP00000466821.1:n.*568G>A
ENST00000696383.1:c.202G>A	ENSP00000512593.1:p.Gly68Ser
ENST00000696384.1:c.*107G>A	ENSP00000512594.1:n.*107G>A
ENST00000696385.1:c.*265G>A	ENSP00000512595.1:n.*265G>A
ENST00000696386.1:c.230G>A	ENSP00000512596.1:p.Gly77Glu
ENST00000696387.1:c.*174G>A	ENSP00000512597.1:n.*174G>A
ENST00000696388.1:c.*393G>A	ENSP00000512598.1:n.*393G>A
ENST00000696389.1:c.*578G>A	ENSP00000512599.1:n.*578G>A
ENST00000696390.1:c.337G>A	ENSP00000512600.1:p.Gly113Ser
ENST00000696391.1:c.*403G>A	ENSP00000512601.1:n.*403G>A
ENST00000696392.1:c.547G>A	ENSP00000512602.1:p.Gly183Ser
ENST00000696393.1:c.547G>A	ENSP00000512603.1:p.Gly183Ser
ENST00000696405.1:c.547G>A	ENSP00000512607.1:p.Gly183Ser
ENST00000269097.9:c.547G>A MANE Select	ENSP00000269097.3:p.Gly183Ser
ENST00000269097.8:c.547G>A	ENSP00000269097.3:p.Gly183Ser
ENST00000585361.5:c.*384G>A	ENSP00000466983.1:n.*384G>A
ENST00000588558.5:c.*522G>A	ENSP00000467624.1:n.*522G>A
ENST00000590253.2:c.49G>A
ENST00000590639.1:n.568G>A
ENST00000591696.1:c.439G>A	ENSP00000468677.1:p.Gly147Ser
NM_138387.3:c.547G>A , LRG_182t1:c.547G>A	NP_612396.1:p.Gly183Ser
NR_028581.1:n.977G>A
NR_028582.1:n.842G>A
XM_006722179.2:c.428G>A	XP_006722242.1:p.Gly143Glu
XM_011525473.1:c.202G>A	XP_011523775.1:p.Gly68Ser
XM_011525474.1:c.202G>A	XP_011523776.1:p.Gly68Ser
NM_001319945.1:c.428G>A	NP_001306874.1:p.Gly143Glu
XM_011525473.3:c.202G>A	XP_011523775.1:p.Gly68Ser
XM_011525474.3:c.202G>A	XP_011523776.1:p.Gly68Ser
XM_017025335.2:c.202G>A	XP_016880824.1:p.Gly68Ser
NM_001319945.2:c.428G>A	NP_001306874.1:p.Gly143Glu
NR_028581.2:n.796G>A
NR_028582.2:n.661G>A
NM_001384165.1:c.202G>A	NP_001371094.1:p.Gly68Ser
NM_001384166.1:c.202G>A	NP_001371095.1:p.Gly68Ser
NM_001384167.1:c.202G>A	NP_001371096.1:p.Gly68Ser
NM_001384168.1:c.202G>A	NP_001371097.1:p.Gly68Ser
NM_138387.4:c.547G>A MANE Select	NP_612396.1:p.Gly183Ser