Canonical Allele Identifier: CA500617136

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153108G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075740G>T , CM000679.2:g.44075740G>T	GRCh38
NC_000017.10:g.42153108G>T , CM000679.1:g.42153108G>T	GRCh37
NC_000017.9:g.39508634G>T	NCBI36
NG_015818.1:g.10011G>T , LRG_182:g.10011G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*575G>T	ENSP00000466983.1:n.*575G>T
ENST00000588558.6:c.*713G>T	ENSP00000467624.1:n.*713G>T
ENST00000590253.3:c.*31G>T	ENSP00000465111.2:n.*31G>T
ENST00000593115.2:c.*759G>T	ENSP00000466821.1:n.*759G>T
ENST00000696383.1:c.393G>T	ENSP00000512593.1:p.Arg131=
ENST00000696384.1:c.*298G>T	ENSP00000512594.1:n.*298G>T
ENST00000696385.1:c.*456G>T	ENSP00000512595.1:n.*456G>T
ENST00000696386.1:c.*31G>T	ENSP00000512596.1:n.*31G>T
ENST00000696387.1:c.*365G>T	ENSP00000512597.1:n.*365G>T
ENST00000696388.1:c.*584G>T	ENSP00000512598.1:n.*584G>T
ENST00000696389.1:c.*769G>T	ENSP00000512599.1:n.*769G>T
ENST00000696390.1:c.528G>T	ENSP00000512600.1:p.Arg176=
ENST00000696391.1:c.*594G>T	ENSP00000512601.1:n.*594G>T
ENST00000696392.1:c.738G>T	ENSP00000512602.1:p.Arg246=
ENST00000696393.1:c.738G>T	ENSP00000512603.1:p.Arg246=
ENST00000696405.1:c.677+289G>T	ENSP00000512607.1:n.677+289G>T
ENST00000269097.9:c.738G>T MANE Select	ENSP00000269097.3:p.Arg246=
ENST00000269097.8:c.738G>T	ENSP00000269097.3:p.Arg246=
ENST00000585361.5:c.*575G>T	ENSP00000466983.1:n.*575G>T
ENST00000588558.5:c.*713G>T	ENSP00000467624.1:n.*713G>T
ENST00000590253.2:c.240G>T
ENST00000590639.1:n.759G>T
ENST00000591696.1:c.630G>T	ENSP00000468677.1:p.Arg210=
NM_138387.3:c.738G>T , LRG_182t1:c.738G>T	NP_612396.1:p.Arg246=
NR_028581.1:n.1168G>T
NR_028582.1:n.1033G>T
XM_011525473.1:c.393G>T	XP_011523775.1:p.Arg131=
XM_011525474.1:c.393G>T	XP_011523776.1:p.Arg131=
NM_001319945.1:c.*31G>T	NP_001306874.1:n.*31G>T
XM_011525473.3:c.393G>T	XP_011523775.1:p.Arg131=
XM_011525474.3:c.393G>T	XP_011523776.1:p.Arg131=
XM_017025335.2:c.393G>T	XP_016880824.1:p.Arg131=
NM_001319945.2:c.*31G>T	NP_001306874.1:n.*31G>T
NR_028581.2:n.987G>T
NR_028582.2:n.852G>T
NM_001384165.1:c.393G>T	NP_001371094.1:p.Arg131=
NM_001384166.1:c.393G>T	NP_001371095.1:p.Arg131=
NM_001384167.1:c.393G>T	NP_001371096.1:p.Arg131=
NM_001384168.1:c.393G>T	NP_001371097.1:p.Arg131=
NM_138387.4:c.738G>T MANE Select	NP_612396.1:p.Arg246=