Canonical Allele Identifier: CA399729130

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153067A>G (hg19) ; chr17:g.44075699A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075699A>G , CM000679.2:g.44075699A>G	GRCh38
NC_000017.10:g.42153067A>G , CM000679.1:g.42153067A>G	GRCh37
NC_000017.9:g.39508593A>G	NCBI36
NG_015818.1:g.9970A>G , LRG_182:g.9970A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*534A>G	ENSP00000466983.1:n.*534A>G
ENST00000588558.6:c.*672A>G	ENSP00000467624.1:n.*672A>G
ENST00000590253.3:c.578A>G	ENSP00000465111.2:p.Gln193Arg
ENST00000593115.2:c.*718A>G	ENSP00000466821.1:n.*718A>G
ENST00000696383.1:c.352A>G	ENSP00000512593.1:p.Lys118Glu
ENST00000696384.1:c.*257A>G	ENSP00000512594.1:n.*257A>G
ENST00000696385.1:c.*415A>G	ENSP00000512595.1:n.*415A>G
ENST00000696386.1:c.380A>G	ENSP00000512596.1:p.Gln127Arg
ENST00000696387.1:c.*324A>G	ENSP00000512597.1:n.*324A>G
ENST00000696388.1:c.*543A>G	ENSP00000512598.1:n.*543A>G
ENST00000696389.1:c.*728A>G	ENSP00000512599.1:n.*728A>G
ENST00000696390.1:c.487A>G	ENSP00000512600.1:p.Lys163Glu
ENST00000696391.1:c.*553A>G	ENSP00000512601.1:n.*553A>G
ENST00000696392.1:c.697A>G	ENSP00000512602.1:p.Lys233Glu
ENST00000696393.1:c.697A>G	ENSP00000512603.1:p.Lys233Glu
ENST00000696405.1:c.677+248A>G	ENSP00000512607.1:n.677+248A>G
ENST00000269097.9:c.697A>G MANE Select	ENSP00000269097.3:p.Lys233Glu
ENST00000269097.8:c.697A>G	ENSP00000269097.3:p.Lys233Glu
ENST00000585361.5:c.*534A>G	ENSP00000466983.1:n.*534A>G
ENST00000588558.5:c.*672A>G	ENSP00000467624.1:n.*672A>G
ENST00000590253.2:c.199A>G
ENST00000590639.1:n.718A>G
ENST00000591696.1:c.589A>G	ENSP00000468677.1:p.Lys197Glu
NM_138387.3:c.697A>G , LRG_182t1:c.697A>G	NP_612396.1:p.Lys233Glu
NR_028581.1:n.1127A>G
NR_028582.1:n.992A>G
XM_006722179.2:c.578A>G	XP_006722242.1:p.Gln193Arg
XM_011525473.1:c.352A>G	XP_011523775.1:p.Lys118Glu
XM_011525474.1:c.352A>G	XP_011523776.1:p.Lys118Glu
NM_001319945.1:c.578A>G	NP_001306874.1:p.Gln193Arg
XM_011525473.3:c.352A>G	XP_011523775.1:p.Lys118Glu
XM_011525474.3:c.352A>G	XP_011523776.1:p.Lys118Glu
XM_017025335.2:c.352A>G	XP_016880824.1:p.Lys118Glu
NM_001319945.2:c.578A>G	NP_001306874.1:p.Gln193Arg
NR_028581.2:n.946A>G
NR_028582.2:n.811A>G
NM_001384165.1:c.352A>G	NP_001371094.1:p.Lys118Glu
NM_001384166.1:c.352A>G	NP_001371095.1:p.Lys118Glu
NM_001384167.1:c.352A>G	NP_001371096.1:p.Lys118Glu
NM_001384168.1:c.352A>G	NP_001371097.1:p.Lys118Glu
NM_138387.4:c.697A>G MANE Select	NP_612396.1:p.Lys233Glu