Canonical Allele Identifier: CA399727310

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42152686C>A (hg19) ; chr17:g.44075318C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075318C>A , CM000679.2:g.44075318C>A	GRCh38
NC_000017.10:g.42152686C>A , CM000679.1:g.42152686C>A	GRCh37
NC_000017.9:g.39508212C>A	NCBI36
NG_015818.1:g.9589C>A , LRG_182:g.9589C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*381C>A	ENSP00000466983.1:n.*381C>A
ENST00000588558.6:c.*519C>A	ENSP00000467624.1:n.*519C>A
ENST00000590253.3:c.425C>A	ENSP00000465111.2:p.Pro142His
ENST00000593115.2:c.*565C>A	ENSP00000466821.1:n.*565C>A
ENST00000696383.1:c.199C>A	ENSP00000512593.1:p.Leu67Met
ENST00000696384.1:c.*104C>A	ENSP00000512594.1:n.*104C>A
ENST00000696385.1:c.*262C>A	ENSP00000512595.1:n.*262C>A
ENST00000696386.1:c.227C>A	ENSP00000512596.1:p.Pro76His
ENST00000696387.1:c.*171C>A	ENSP00000512597.1:n.*171C>A
ENST00000696388.1:c.*390C>A	ENSP00000512598.1:n.*390C>A
ENST00000696389.1:c.*575C>A	ENSP00000512599.1:n.*575C>A
ENST00000696390.1:c.334C>A	ENSP00000512600.1:p.Leu112Met
ENST00000696391.1:c.*400C>A	ENSP00000512601.1:n.*400C>A
ENST00000696392.1:c.544C>A	ENSP00000512602.1:p.Leu182Met
ENST00000696393.1:c.544C>A	ENSP00000512603.1:p.Leu182Met
ENST00000696405.1:c.544C>A	ENSP00000512607.1:p.Leu182Met
ENST00000269097.9:c.544C>A MANE Select	ENSP00000269097.3:p.Leu182Met
ENST00000269097.8:c.544C>A	ENSP00000269097.3:p.Leu182Met
ENST00000585361.5:c.*381C>A	ENSP00000466983.1:n.*381C>A
ENST00000588558.5:c.*519C>A	ENSP00000467624.1:n.*519C>A
ENST00000590253.2:c.46C>A
ENST00000590639.1:n.565C>A
ENST00000591696.1:c.436C>A	ENSP00000468677.1:p.Leu146Met
NM_138387.3:c.544C>A , LRG_182t1:c.544C>A	NP_612396.1:p.Leu182Met
NR_028581.1:n.974C>A
NR_028582.1:n.839C>A
XM_006722179.2:c.425C>A	XP_006722242.1:p.Pro142His
XM_011525473.1:c.199C>A	XP_011523775.1:p.Leu67Met
XM_011525474.1:c.199C>A	XP_011523776.1:p.Leu67Met
NM_001319945.1:c.425C>A	NP_001306874.1:p.Pro142His
XM_011525473.3:c.199C>A	XP_011523775.1:p.Leu67Met
XM_011525474.3:c.199C>A	XP_011523776.1:p.Leu67Met
XM_017025335.2:c.199C>A	XP_016880824.1:p.Leu67Met
NM_001319945.2:c.425C>A	NP_001306874.1:p.Pro142His
NR_028581.2:n.793C>A
NR_028582.2:n.658C>A
NM_001384165.1:c.199C>A	NP_001371094.1:p.Leu67Met
NM_001384166.1:c.199C>A	NP_001371095.1:p.Leu67Met
NM_001384167.1:c.199C>A	NP_001371096.1:p.Leu67Met
NM_001384168.1:c.199C>A	NP_001371097.1:p.Leu67Met
NM_138387.4:c.544C>A MANE Select	NP_612396.1:p.Leu182Met