Canonical Allele Identifier: CA399728573

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42152752C>G (hg19) ; chr17:g.44075384C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075384C>G , CM000679.2:g.44075384C>G	GRCh38
NC_000017.10:g.42152752C>G , CM000679.1:g.42152752C>G	GRCh37
NC_000017.9:g.39508278C>G	NCBI36
NG_015818.1:g.9655C>G , LRG_182:g.9655C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*447C>G	ENSP00000466983.1:n.*447C>G
ENST00000588558.6:c.*585C>G	ENSP00000467624.1:n.*585C>G
ENST00000590253.3:c.491C>G	ENSP00000465111.2:p.Thr164Ser
ENST00000593115.2:c.*631C>G	ENSP00000466821.1:n.*631C>G
ENST00000696383.1:c.265C>G	ENSP00000512593.1:p.Leu89Val
ENST00000696384.1:c.*170C>G	ENSP00000512594.1:n.*170C>G
ENST00000696385.1:c.*328C>G	ENSP00000512595.1:n.*328C>G
ENST00000696386.1:c.293C>G	ENSP00000512596.1:p.Thr98Ser
ENST00000696387.1:c.*237C>G	ENSP00000512597.1:n.*237C>G
ENST00000696388.1:c.*456C>G	ENSP00000512598.1:n.*456C>G
ENST00000696389.1:c.*641C>G	ENSP00000512599.1:n.*641C>G
ENST00000696390.1:c.400C>G	ENSP00000512600.1:p.Leu134Val
ENST00000696391.1:c.*466C>G	ENSP00000512601.1:n.*466C>G
ENST00000696392.1:c.610C>G	ENSP00000512602.1:p.Leu204Val
ENST00000696393.1:c.610C>G	ENSP00000512603.1:p.Leu204Val
ENST00000696405.1:c.610C>G	ENSP00000512607.1:p.Leu204Val
ENST00000269097.9:c.610C>G MANE Select	ENSP00000269097.3:p.Leu204Val
ENST00000269097.8:c.610C>G	ENSP00000269097.3:p.Leu204Val
ENST00000585361.5:c.*447C>G	ENSP00000466983.1:n.*447C>G
ENST00000588558.5:c.*585C>G	ENSP00000467624.1:n.*585C>G
ENST00000590253.2:c.112C>G
ENST00000590639.1:n.631C>G
ENST00000591696.1:c.502C>G	ENSP00000468677.1:p.Leu168Val
NM_138387.3:c.610C>G , LRG_182t1:c.610C>G	NP_612396.1:p.Leu204Val
NR_028581.1:n.1040C>G
NR_028582.1:n.905C>G
XM_006722179.2:c.491C>G	XP_006722242.1:p.Thr164Ser
XM_011525473.1:c.265C>G	XP_011523775.1:p.Leu89Val
XM_011525474.1:c.265C>G	XP_011523776.1:p.Leu89Val
NM_001319945.1:c.491C>G	NP_001306874.1:p.Thr164Ser
XM_011525473.3:c.265C>G	XP_011523775.1:p.Leu89Val
XM_011525474.3:c.265C>G	XP_011523776.1:p.Leu89Val
XM_017025335.2:c.265C>G	XP_016880824.1:p.Leu89Val
NM_001319945.2:c.491C>G	NP_001306874.1:p.Thr164Ser
NR_028581.2:n.859C>G
NR_028582.2:n.724C>G
NM_001384165.1:c.265C>G	NP_001371094.1:p.Leu89Val
NM_001384166.1:c.265C>G	NP_001371095.1:p.Leu89Val
NM_001384167.1:c.265C>G	NP_001371096.1:p.Leu89Val
NM_001384168.1:c.265C>G	NP_001371097.1:p.Leu89Val
NM_138387.4:c.610C>G MANE Select	NP_612396.1:p.Leu204Val