Canonical Allele Identifier: CA399727321

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42152687T>A (hg19) ; chr17:g.44075319T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075319T>A , CM000679.2:g.44075319T>A	GRCh38
NC_000017.10:g.42152687T>A , CM000679.1:g.42152687T>A	GRCh37
NC_000017.9:g.39508213T>A	NCBI36
NG_015818.1:g.9590T>A , LRG_182:g.9590T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*382T>A	ENSP00000466983.1:n.*382T>A
ENST00000588558.6:c.*520T>A	ENSP00000467624.1:n.*520T>A
ENST00000590253.3:c.426T>A	ENSP00000465111.2:p.Pro142=
ENST00000593115.2:c.*566T>A	ENSP00000466821.1:n.*566T>A
ENST00000696383.1:c.200T>A	ENSP00000512593.1:p.Leu67Gln
ENST00000696384.1:c.*105T>A	ENSP00000512594.1:n.*105T>A
ENST00000696385.1:c.*263T>A	ENSP00000512595.1:n.*263T>A
ENST00000696386.1:c.228T>A	ENSP00000512596.1:p.Pro76=
ENST00000696387.1:c.*172T>A	ENSP00000512597.1:n.*172T>A
ENST00000696388.1:c.*391T>A	ENSP00000512598.1:n.*391T>A
ENST00000696389.1:c.*576T>A	ENSP00000512599.1:n.*576T>A
ENST00000696390.1:c.335T>A	ENSP00000512600.1:p.Leu112Gln
ENST00000696391.1:c.*401T>A	ENSP00000512601.1:n.*401T>A
ENST00000696392.1:c.545T>A	ENSP00000512602.1:p.Leu182Gln
ENST00000696393.1:c.545T>A	ENSP00000512603.1:p.Leu182Gln
ENST00000696405.1:c.545T>A	ENSP00000512607.1:p.Leu182Gln
ENST00000269097.9:c.545T>A MANE Select	ENSP00000269097.3:p.Leu182Gln
ENST00000269097.8:c.545T>A	ENSP00000269097.3:p.Leu182Gln
ENST00000585361.5:c.*382T>A	ENSP00000466983.1:n.*382T>A
ENST00000588558.5:c.*520T>A	ENSP00000467624.1:n.*520T>A
ENST00000590253.2:c.47T>A
ENST00000590639.1:n.566T>A
ENST00000591696.1:c.437T>A	ENSP00000468677.1:p.Leu146Gln
NM_138387.3:c.545T>A , LRG_182t1:c.545T>A	NP_612396.1:p.Leu182Gln
NR_028581.1:n.975T>A
NR_028582.1:n.840T>A
XM_006722179.2:c.426T>A	XP_006722242.1:p.Pro142=
XM_011525473.1:c.200T>A	XP_011523775.1:p.Leu67Gln
XM_011525474.1:c.200T>A	XP_011523776.1:p.Leu67Gln
NM_001319945.1:c.426T>A	NP_001306874.1:p.Pro142=
XM_011525473.3:c.200T>A	XP_011523775.1:p.Leu67Gln
XM_011525474.3:c.200T>A	XP_011523776.1:p.Leu67Gln
XM_017025335.2:c.200T>A	XP_016880824.1:p.Leu67Gln
NM_001319945.2:c.426T>A	NP_001306874.1:p.Pro142=
NR_028581.2:n.794T>A
NR_028582.2:n.659T>A
NM_001384165.1:c.200T>A	NP_001371094.1:p.Leu67Gln
NM_001384166.1:c.200T>A	NP_001371095.1:p.Leu67Gln
NM_001384167.1:c.200T>A	NP_001371096.1:p.Leu67Gln
NM_001384168.1:c.200T>A	NP_001371097.1:p.Leu67Gln
NM_138387.4:c.545T>A MANE Select	NP_612396.1:p.Leu182Gln