Canonical Allele Identifier: CA500243323

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42152707C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075339C>A , CM000679.2:g.44075339C>A	GRCh38
NC_000017.10:g.42152707C>A , CM000679.1:g.42152707C>A	GRCh37
NC_000017.9:g.39508233C>A	NCBI36
NG_015818.1:g.9610C>A , LRG_182:g.9610C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*402C>A	ENSP00000466983.1:n.*402C>A
ENST00000588558.6:c.*540C>A	ENSP00000467624.1:n.*540C>A
ENST00000590253.3:c.446C>A	ENSP00000465111.2:p.Pro149Gln
ENST00000593115.2:c.*586C>A	ENSP00000466821.1:n.*586C>A
ENST00000696383.1:c.220C>A	ENSP00000512593.1:p.Arg74=
ENST00000696384.1:c.*125C>A	ENSP00000512594.1:n.*125C>A
ENST00000696385.1:c.*283C>A	ENSP00000512595.1:n.*283C>A
ENST00000696386.1:c.248C>A	ENSP00000512596.1:p.Pro83Gln
ENST00000696387.1:c.*192C>A	ENSP00000512597.1:n.*192C>A
ENST00000696388.1:c.*411C>A	ENSP00000512598.1:n.*411C>A
ENST00000696389.1:c.*596C>A	ENSP00000512599.1:n.*596C>A
ENST00000696390.1:c.355C>A	ENSP00000512600.1:p.Arg119=
ENST00000696391.1:c.*421C>A	ENSP00000512601.1:n.*421C>A
ENST00000696392.1:c.565C>A	ENSP00000512602.1:p.Arg189=
ENST00000696393.1:c.565C>A	ENSP00000512603.1:p.Arg189=
ENST00000696405.1:c.565C>A	ENSP00000512607.1:p.Arg189=
ENST00000269097.9:c.565C>A MANE Select	ENSP00000269097.3:p.Arg189=
ENST00000269097.8:c.565C>A	ENSP00000269097.3:p.Arg189=
ENST00000585361.5:c.*402C>A	ENSP00000466983.1:n.*402C>A
ENST00000588558.5:c.*540C>A	ENSP00000467624.1:n.*540C>A
ENST00000590253.2:c.67C>A
ENST00000590639.1:n.586C>A
ENST00000591696.1:c.457C>A	ENSP00000468677.1:p.Arg153=
NM_138387.3:c.565C>A , LRG_182t1:c.565C>A	NP_612396.1:p.Arg189=
NR_028581.1:n.995C>A
NR_028582.1:n.860C>A
XM_006722179.2:c.446C>A	XP_006722242.1:p.Pro149Gln
XM_011525473.1:c.220C>A	XP_011523775.1:p.Arg74=
XM_011525474.1:c.220C>A	XP_011523776.1:p.Arg74=
NM_001319945.1:c.446C>A	NP_001306874.1:p.Pro149Gln
XM_011525473.3:c.220C>A	XP_011523775.1:p.Arg74=
XM_011525474.3:c.220C>A	XP_011523776.1:p.Arg74=
XM_017025335.2:c.220C>A	XP_016880824.1:p.Arg74=
NM_001319945.2:c.446C>A	NP_001306874.1:p.Pro149Gln
NR_028581.2:n.814C>A
NR_028582.2:n.679C>A
NM_001384165.1:c.220C>A	NP_001371094.1:p.Arg74=
NM_001384166.1:c.220C>A	NP_001371095.1:p.Arg74=
NM_001384167.1:c.220C>A	NP_001371096.1:p.Arg74=
NM_001384168.1:c.220C>A	NP_001371097.1:p.Arg74=
NM_138387.4:c.565C>A MANE Select	NP_612396.1:p.Arg189=