Canonical Allele Identifier: CA500243292

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42152697G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075329G>T , CM000679.2:g.44075329G>T	GRCh38
NC_000017.10:g.42152697G>T , CM000679.1:g.42152697G>T	GRCh37
NC_000017.9:g.39508223G>T	NCBI36
NG_015818.1:g.9600G>T , LRG_182:g.9600G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*392G>T	ENSP00000466983.1:n.*392G>T
ENST00000588558.6:c.*530G>T	ENSP00000467624.1:n.*530G>T
ENST00000590253.3:c.436G>T	ENSP00000465111.2:p.Asp146Tyr
ENST00000593115.2:c.*576G>T	ENSP00000466821.1:n.*576G>T
ENST00000696383.1:c.210G>T	ENSP00000512593.1:p.Leu70=
ENST00000696384.1:c.*115G>T	ENSP00000512594.1:n.*115G>T
ENST00000696385.1:c.*273G>T	ENSP00000512595.1:n.*273G>T
ENST00000696386.1:c.238G>T	ENSP00000512596.1:p.Asp80Tyr
ENST00000696387.1:c.*182G>T	ENSP00000512597.1:n.*182G>T
ENST00000696388.1:c.*401G>T	ENSP00000512598.1:n.*401G>T
ENST00000696389.1:c.*586G>T	ENSP00000512599.1:n.*586G>T
ENST00000696390.1:c.345G>T	ENSP00000512600.1:p.Leu115=
ENST00000696391.1:c.*411G>T	ENSP00000512601.1:n.*411G>T
ENST00000696392.1:c.555G>T	ENSP00000512602.1:p.Leu185=
ENST00000696393.1:c.555G>T	ENSP00000512603.1:p.Leu185=
ENST00000696405.1:c.555G>T	ENSP00000512607.1:p.Leu185=
ENST00000269097.9:c.555G>T MANE Select	ENSP00000269097.3:p.Leu185=
ENST00000269097.8:c.555G>T	ENSP00000269097.3:p.Leu185=
ENST00000585361.5:c.*392G>T	ENSP00000466983.1:n.*392G>T
ENST00000588558.5:c.*530G>T	ENSP00000467624.1:n.*530G>T
ENST00000590253.2:c.57G>T
ENST00000590639.1:n.576G>T
ENST00000591696.1:c.447G>T	ENSP00000468677.1:p.Leu149=
NM_138387.3:c.555G>T , LRG_182t1:c.555G>T	NP_612396.1:p.Leu185=
NR_028581.1:n.985G>T
NR_028582.1:n.850G>T
XM_006722179.2:c.436G>T	XP_006722242.1:p.Asp146Tyr
XM_011525473.1:c.210G>T	XP_011523775.1:p.Leu70=
XM_011525474.1:c.210G>T	XP_011523776.1:p.Leu70=
NM_001319945.1:c.436G>T	NP_001306874.1:p.Asp146Tyr
XM_011525473.3:c.210G>T	XP_011523775.1:p.Leu70=
XM_011525474.3:c.210G>T	XP_011523776.1:p.Leu70=
XM_017025335.2:c.210G>T	XP_016880824.1:p.Leu70=
NM_001319945.2:c.436G>T	NP_001306874.1:p.Asp146Tyr
NR_028581.2:n.804G>T
NR_028582.2:n.669G>T
NM_001384165.1:c.210G>T	NP_001371094.1:p.Leu70=
NM_001384166.1:c.210G>T	NP_001371095.1:p.Leu70=
NM_001384167.1:c.210G>T	NP_001371096.1:p.Leu70=
NM_001384168.1:c.210G>T	NP_001371097.1:p.Leu70=
NM_138387.4:c.555G>T MANE Select	NP_612396.1:p.Leu185=