Canonical Allele Identifier: CA500617171

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153120C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075752C>A , CM000679.2:g.44075752C>A	GRCh38
NC_000017.10:g.42153120C>A , CM000679.1:g.42153120C>A	GRCh37
NC_000017.9:g.39508646C>A	NCBI36
NG_015818.1:g.10023C>A , LRG_182:g.10023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*587C>A	ENSP00000466983.1:n.*587C>A
ENST00000588558.6:c.*725C>A	ENSP00000467624.1:n.*725C>A
ENST00000590253.3:c.*43C>A	ENSP00000465111.2:n.*43C>A
ENST00000593115.2:c.*771C>A	ENSP00000466821.1:n.*771C>A
ENST00000696383.1:c.405C>A	ENSP00000512593.1:p.Ser135=
ENST00000696384.1:c.*310C>A	ENSP00000512594.1:n.*310C>A
ENST00000696385.1:c.*468C>A	ENSP00000512595.1:n.*468C>A
ENST00000696386.1:c.*43C>A	ENSP00000512596.1:n.*43C>A
ENST00000696387.1:c.*377C>A	ENSP00000512597.1:n.*377C>A
ENST00000696388.1:c.*596C>A	ENSP00000512598.1:n.*596C>A
ENST00000696389.1:c.*781C>A	ENSP00000512599.1:n.*781C>A
ENST00000696390.1:c.540C>A	ENSP00000512600.1:p.Ser180=
ENST00000696391.1:c.*606C>A	ENSP00000512601.1:n.*606C>A
ENST00000696392.1:c.750C>A	ENSP00000512602.1:p.Ser250=
ENST00000696393.1:c.750C>A	ENSP00000512603.1:p.Ser250=
ENST00000696405.1:c.677+301C>A	ENSP00000512607.1:n.677+301C>A
ENST00000269097.9:c.750C>A MANE Select	ENSP00000269097.3:p.Ser250=
ENST00000269097.8:c.750C>A	ENSP00000269097.3:p.Ser250=
ENST00000585361.5:c.*587C>A	ENSP00000466983.1:n.*587C>A
ENST00000588558.5:c.*725C>A	ENSP00000467624.1:n.*725C>A
ENST00000590253.2:c.252C>A
ENST00000590639.1:n.771C>A
ENST00000591696.1:c.642C>A	ENSP00000468677.1:p.Ser214=
NM_138387.3:c.750C>A , LRG_182t1:c.750C>A	NP_612396.1:p.Ser250=
NR_028581.1:n.1180C>A
NR_028582.1:n.1045C>A
XM_011525473.1:c.405C>A	XP_011523775.1:p.Ser135=
XM_011525474.1:c.405C>A	XP_011523776.1:p.Ser135=
NM_001319945.1:c.*43C>A	NP_001306874.1:n.*43C>A
XM_011525473.3:c.405C>A	XP_011523775.1:p.Ser135=
XM_011525474.3:c.405C>A	XP_011523776.1:p.Ser135=
XM_017025335.2:c.405C>A	XP_016880824.1:p.Ser135=
NM_001319945.2:c.*43C>A	NP_001306874.1:n.*43C>A
NR_028581.2:n.999C>A
NR_028582.2:n.864C>A
NM_001384165.1:c.405C>A	NP_001371094.1:p.Ser135=
NM_001384166.1:c.405C>A	NP_001371095.1:p.Ser135=
NM_001384167.1:c.405C>A	NP_001371096.1:p.Ser135=
NM_001384168.1:c.405C>A	NP_001371097.1:p.Ser135=
NM_138387.4:c.750C>A MANE Select	NP_612396.1:p.Ser250=