Canonical Allele Identifier: CA500617191

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153129T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075761T>A , CM000679.2:g.44075761T>A	GRCh38
NC_000017.10:g.42153129T>A , CM000679.1:g.42153129T>A	GRCh37
NC_000017.9:g.39508655T>A	NCBI36
NG_015818.1:g.10032T>A , LRG_182:g.10032T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*596T>A	ENSP00000466983.1:n.*596T>A
ENST00000588558.6:c.*734T>A	ENSP00000467624.1:n.*734T>A
ENST00000590253.3:c.*52T>A	ENSP00000465111.2:n.*52T>A
ENST00000593115.2:c.*780T>A	ENSP00000466821.1:n.*780T>A
ENST00000696383.1:c.414T>A	ENSP00000512593.1:p.Arg138=
ENST00000696384.1:c.*319T>A	ENSP00000512594.1:n.*319T>A
ENST00000696385.1:c.*477T>A	ENSP00000512595.1:n.*477T>A
ENST00000696386.1:c.*52T>A	ENSP00000512596.1:n.*52T>A
ENST00000696387.1:c.*386T>A	ENSP00000512597.1:n.*386T>A
ENST00000696388.1:c.*605T>A	ENSP00000512598.1:n.*605T>A
ENST00000696389.1:c.*790T>A	ENSP00000512599.1:n.*790T>A
ENST00000696390.1:c.549T>A	ENSP00000512600.1:p.Arg183=
ENST00000696391.1:c.*615T>A	ENSP00000512601.1:n.*615T>A
ENST00000696392.1:c.759T>A	ENSP00000512602.1:p.Arg253=
ENST00000696393.1:c.759T>A	ENSP00000512603.1:p.Arg253=
ENST00000696405.1:c.677+310T>A	ENSP00000512607.1:n.677+310T>A
ENST00000269097.9:c.759T>A MANE Select	ENSP00000269097.3:p.Arg253=
ENST00000269097.8:c.759T>A	ENSP00000269097.3:p.Arg253=
ENST00000585361.5:c.*596T>A	ENSP00000466983.1:n.*596T>A
ENST00000588558.5:c.*734T>A	ENSP00000467624.1:n.*734T>A
ENST00000590253.2:c.261T>A
ENST00000590639.1:n.780T>A
ENST00000591696.1:c.651T>A	ENSP00000468677.1:p.Arg217=
NM_138387.3:c.759T>A , LRG_182t1:c.759T>A	NP_612396.1:p.Arg253=
NR_028581.1:n.1189T>A
NR_028582.1:n.1054T>A
XM_011525473.1:c.414T>A	XP_011523775.1:p.Arg138=
XM_011525474.1:c.414T>A	XP_011523776.1:p.Arg138=
NM_001319945.1:c.*52T>A	NP_001306874.1:n.*52T>A
XM_011525473.3:c.414T>A	XP_011523775.1:p.Arg138=
XM_011525474.3:c.414T>A	XP_011523776.1:p.Arg138=
XM_017025335.2:c.414T>A	XP_016880824.1:p.Arg138=
NM_001319945.2:c.*52T>A	NP_001306874.1:n.*52T>A
NR_028581.2:n.1008T>A
NR_028582.2:n.873T>A
NM_001384165.1:c.414T>A	NP_001371094.1:p.Arg138=
NM_001384166.1:c.414T>A	NP_001371095.1:p.Arg138=
NM_001384167.1:c.414T>A	NP_001371096.1:p.Arg138=
NM_001384168.1:c.414T>A	NP_001371097.1:p.Arg138=
NM_138387.4:c.759T>A MANE Select	NP_612396.1:p.Arg253=