Canonical Allele Identifier: CA399729136

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153070T>A (hg19) ; chr17:g.44075702T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075702T>A , CM000679.2:g.44075702T>A	GRCh38
NC_000017.10:g.42153070T>A , CM000679.1:g.42153070T>A	GRCh37
NC_000017.9:g.39508596T>A	NCBI36
NG_015818.1:g.9973T>A , LRG_182:g.9973T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*537T>A	ENSP00000466983.1:n.*537T>A
ENST00000588558.6:c.*675T>A	ENSP00000467624.1:n.*675T>A
ENST00000590253.3:c.581T>A	ENSP00000465111.2:p.Val194Glu
ENST00000593115.2:c.*721T>A	ENSP00000466821.1:n.*721T>A
ENST00000696383.1:c.355T>A	ENSP00000512593.1:p.Trp119Arg
ENST00000696384.1:c.*260T>A	ENSP00000512594.1:n.*260T>A
ENST00000696385.1:c.*418T>A	ENSP00000512595.1:n.*418T>A
ENST00000696386.1:c.383T>A	ENSP00000512596.1:p.Val128Glu
ENST00000696387.1:c.*327T>A	ENSP00000512597.1:n.*327T>A
ENST00000696388.1:c.*546T>A	ENSP00000512598.1:n.*546T>A
ENST00000696389.1:c.*731T>A	ENSP00000512599.1:n.*731T>A
ENST00000696390.1:c.490T>A	ENSP00000512600.1:p.Trp164Arg
ENST00000696391.1:c.*556T>A	ENSP00000512601.1:n.*556T>A
ENST00000696392.1:c.700T>A	ENSP00000512602.1:p.Trp234Arg
ENST00000696393.1:c.700T>A	ENSP00000512603.1:p.Trp234Arg
ENST00000696405.1:c.677+251T>A	ENSP00000512607.1:n.677+251T>A
ENST00000269097.9:c.700T>A MANE Select	ENSP00000269097.3:p.Trp234Arg
ENST00000269097.8:c.700T>A	ENSP00000269097.3:p.Trp234Arg
ENST00000585361.5:c.*537T>A	ENSP00000466983.1:n.*537T>A
ENST00000588558.5:c.*675T>A	ENSP00000467624.1:n.*675T>A
ENST00000590253.2:c.202T>A
ENST00000590639.1:n.721T>A
ENST00000591696.1:c.592T>A	ENSP00000468677.1:p.Trp198Arg
NM_138387.3:c.700T>A , LRG_182t1:c.700T>A	NP_612396.1:p.Trp234Arg
NR_028581.1:n.1130T>A
NR_028582.1:n.995T>A
XM_006722179.2:c.581T>A	XP_006722242.1:p.Val194Glu
XM_011525473.1:c.355T>A	XP_011523775.1:p.Trp119Arg
XM_011525474.1:c.355T>A	XP_011523776.1:p.Trp119Arg
NM_001319945.1:c.581T>A	NP_001306874.1:p.Val194Glu
XM_011525473.3:c.355T>A	XP_011523775.1:p.Trp119Arg
XM_011525474.3:c.355T>A	XP_011523776.1:p.Trp119Arg
XM_017025335.2:c.355T>A	XP_016880824.1:p.Trp119Arg
NM_001319945.2:c.581T>A	NP_001306874.1:p.Val194Glu
NR_028581.2:n.949T>A
NR_028582.2:n.814T>A
NM_001384165.1:c.355T>A	NP_001371094.1:p.Trp119Arg
NM_001384166.1:c.355T>A	NP_001371095.1:p.Trp119Arg
NM_001384167.1:c.355T>A	NP_001371096.1:p.Trp119Arg
NM_001384168.1:c.355T>A	NP_001371097.1:p.Trp119Arg
NM_138387.4:c.700T>A MANE Select	NP_612396.1:p.Trp234Arg