Canonical Allele Identifier: CA8595996

Gene: G6PC3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44074735G>A , CM000679.2:g.44074735G>A	GRCh38
NC_000017.10:g.42152103G>A , CM000679.1:g.42152103G>A	GRCh37
NC_000017.9:g.39507629G>A	NCBI36
NG_015818.1:g.9006G>A , LRG_182:g.9006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*218G>A	ENSP00000466983.1:n.*218G>A
ENST00000588558.6:c.*356G>A	ENSP00000467624.1:n.*356G>A
ENST00000590253.3:c.381G>A	ENSP00000465111.2:p.Thr127=
ENST00000593115.2:c.*402G>A	ENSP00000466821.1:n.*402G>A
ENST00000696383.1:c.36G>A	ENSP00000512593.1:p.Thr12=
ENST00000696384.1:c.274G>A	ENSP00000512594.1:p.Gly92Ser
ENST00000696385.1:c.*218G>A	ENSP00000512595.1:n.*218G>A
ENST00000696386.1:c.219-575G>A	ENSP00000512596.1:n.219-575G>A
ENST00000696387.1:c.*162+469G>A	ENSP00000512597.1:n.*162+469G>A
ENST00000696388.1:c.*346G>A	ENSP00000512598.1:n.*346G>A
ENST00000696389.1:c.*412G>A	ENSP00000512599.1:n.*412G>A
ENST00000696390.1:c.325+469G>A	ENSP00000512600.1:n.325+469G>A
ENST00000696391.1:c.*356G>A	ENSP00000512601.1:n.*356G>A
ENST00000696392.1:c.381G>A	ENSP00000512602.1:p.Thr127=
ENST00000696393.1:c.381G>A	ENSP00000512603.1:p.Thr127=
ENST00000696405.1:c.381G>A	ENSP00000512607.1:p.Thr127=
ENST00000269097.9:c.381G>A MANE Select	ENSP00000269097.3:p.Thr127=
ENST00000269097.8:c.381G>A	ENSP00000269097.3:p.Thr127=
ENST00000585361.5:c.*218G>A	ENSP00000466983.1:n.*218G>A
ENST00000588558.5:c.*356G>A	ENSP00000467624.1:n.*356G>A
ENST00000590253.2:c.2G>A
ENST00000590639.1:n.180G>A
ENST00000591696.1:c.289-16G>A	ENSP00000468677.1:n.289-16G>A
NM_138387.3:c.381G>A , LRG_182t1:c.381G>A	NP_612396.1:p.Thr127=
NR_028581.1:n.811G>A
NR_028582.1:n.676G>A
XM_006722179.2:c.381G>A	XP_006722242.1:p.Thr127=
XM_011525473.1:c.36G>A	XP_011523775.1:p.Thr12=
XM_011525474.1:c.36G>A	XP_011523776.1:p.Thr12=
NM_001319945.1:c.381G>A	NP_001306874.1:p.Thr127=
XM_011525473.3:c.36G>A	XP_011523775.1:p.Thr12=
XM_011525474.3:c.36G>A	XP_011523776.1:p.Thr12=
XM_017025335.2:c.36G>A	XP_016880824.1:p.Thr12=
NM_001319945.2:c.381G>A	NP_001306874.1:p.Thr127=
NR_028581.2:n.630G>A
NR_028582.2:n.495G>A
NM_001384165.1:c.36G>A	NP_001371094.1:p.Thr12=
NM_001384166.1:c.36G>A	NP_001371095.1:p.Thr12=
NM_001384167.1:c.36G>A	NP_001371096.1:p.Thr12=
NM_001384168.1:c.36G>A	NP_001371097.1:p.Thr12=
NM_138387.4:c.381G>A MANE Select	NP_612396.1:p.Thr127=