Canonical Allele Identifier: CA500244181

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153250C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075882C>T , CM000679.2:g.44075882C>T	GRCh38
NC_000017.10:g.42153250C>T , CM000679.1:g.42153250C>T	GRCh37
NC_000017.9:g.39508776C>T	NCBI36
NG_015818.1:g.10153C>T , LRG_182:g.10153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*717C>T	ENSP00000466983.1:n.*717C>T
ENST00000588558.6:c.*855C>T	ENSP00000467624.1:n.*855C>T
ENST00000590253.3:c.*173C>T	ENSP00000465111.2:n.*173C>T
ENST00000593115.2:c.*901C>T	ENSP00000466821.1:n.*901C>T
ENST00000696383.1:c.535C>T	ENSP00000512593.1:p.Leu179=
ENST00000696384.1:c.*440C>T	ENSP00000512594.1:n.*440C>T
ENST00000696385.1:c.*598C>T	ENSP00000512595.1:n.*598C>T
ENST00000696386.1:c.*173C>T	ENSP00000512596.1:n.*173C>T
ENST00000696387.1:c.*507C>T	ENSP00000512597.1:n.*507C>T
ENST00000696388.1:c.*726C>T	ENSP00000512598.1:n.*726C>T
ENST00000696389.1:c.*911C>T	ENSP00000512599.1:n.*911C>T
ENST00000696390.1:c.670C>T	ENSP00000512600.1:p.Leu224=
ENST00000696391.1:c.*736C>T	ENSP00000512601.1:n.*736C>T
ENST00000696392.1:c.816+64C>T	ENSP00000512602.1:n.816+64C>T
ENST00000696393.1:c.816+64C>T	ENSP00000512603.1:n.816+64C>T
ENST00000696405.1:c.677+431C>T	ENSP00000512607.1:n.677+431C>T
ENST00000269097.9:c.880C>T MANE Select	ENSP00000269097.3:p.Leu294=
ENST00000269097.8:c.880C>T	ENSP00000269097.3:p.Leu294=
ENST00000585361.5:c.*717C>T	ENSP00000466983.1:n.*717C>T
ENST00000588558.5:c.*855C>T	ENSP00000467624.1:n.*855C>T
ENST00000590253.2:c.382C>T
NM_138387.3:c.880C>T , LRG_182t1:c.880C>T	NP_612396.1:p.Leu294=
NR_028581.1:n.1310C>T
NR_028582.1:n.1175C>T
XM_011525473.1:c.535C>T	XP_011523775.1:p.Leu179=
XM_011525474.1:c.535C>T	XP_011523776.1:p.Leu179=
NM_001319945.1:c.*173C>T	NP_001306874.1:n.*173C>T
XM_011525473.3:c.535C>T	XP_011523775.1:p.Leu179=
XM_011525474.3:c.535C>T	XP_011523776.1:p.Leu179=
XM_017025335.2:c.535C>T	XP_016880824.1:p.Leu179=
NM_001319945.2:c.*173C>T	NP_001306874.1:n.*173C>T
NR_028581.2:n.1129C>T
NR_028582.2:n.994C>T
NM_001384165.1:c.535C>T	NP_001371094.1:p.Leu179=
NM_001384166.1:c.535C>T	NP_001371095.1:p.Leu179=
NM_001384167.1:c.535C>T	NP_001371096.1:p.Leu179=
NM_001384168.1:c.535C>T	NP_001371097.1:p.Leu179=
NM_138387.4:c.880C>T MANE Select	NP_612396.1:p.Leu294=