Canonical Allele Identifier: CA399729322

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153159T>G (hg19) ; chr17:g.44075791T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075791T>G , CM000679.2:g.44075791T>G	GRCh38
NC_000017.10:g.42153159T>G , CM000679.1:g.42153159T>G	GRCh37
NC_000017.9:g.39508685T>G	NCBI36
NG_015818.1:g.10062T>G , LRG_182:g.10062T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*626T>G	ENSP00000466983.1:n.*626T>G
ENST00000588558.6:c.*764T>G	ENSP00000467624.1:n.*764T>G
ENST00000590253.3:c.*82T>G	ENSP00000465111.2:n.*82T>G
ENST00000593115.2:c.*810T>G	ENSP00000466821.1:n.*810T>G
ENST00000696383.1:c.444T>G	ENSP00000512593.1:p.Ile148Met
ENST00000696384.1:c.*349T>G	ENSP00000512594.1:n.*349T>G
ENST00000696385.1:c.*507T>G	ENSP00000512595.1:n.*507T>G
ENST00000696386.1:c.*82T>G	ENSP00000512596.1:n.*82T>G
ENST00000696387.1:c.*416T>G	ENSP00000512597.1:n.*416T>G
ENST00000696388.1:c.*635T>G	ENSP00000512598.1:n.*635T>G
ENST00000696389.1:c.*820T>G	ENSP00000512599.1:n.*820T>G
ENST00000696390.1:c.579T>G	ENSP00000512600.1:p.Ile193Met
ENST00000696391.1:c.*645T>G	ENSP00000512601.1:n.*645T>G
ENST00000696392.1:c.789T>G	ENSP00000512602.1:p.Ile263Met
ENST00000696393.1:c.789T>G	ENSP00000512603.1:p.Ile263Met
ENST00000696405.1:c.677+340T>G	ENSP00000512607.1:n.677+340T>G
ENST00000269097.9:c.789T>G MANE Select	ENSP00000269097.3:p.Ile263Met
ENST00000269097.8:c.789T>G	ENSP00000269097.3:p.Ile263Met
ENST00000585361.5:c.*626T>G	ENSP00000466983.1:n.*626T>G
ENST00000588558.5:c.*764T>G	ENSP00000467624.1:n.*764T>G
ENST00000590253.2:c.291T>G
ENST00000590639.1:n.810T>G
ENST00000591696.1:c.681T>G	ENSP00000468677.1:p.Ile227Met
NM_138387.3:c.789T>G , LRG_182t1:c.789T>G	NP_612396.1:p.Ile263Met
NR_028581.1:n.1219T>G
NR_028582.1:n.1084T>G
XM_011525473.1:c.444T>G	XP_011523775.1:p.Ile148Met
XM_011525474.1:c.444T>G	XP_011523776.1:p.Ile148Met
NM_001319945.1:c.*82T>G	NP_001306874.1:n.*82T>G
XM_011525473.3:c.444T>G	XP_011523775.1:p.Ile148Met
XM_011525474.3:c.444T>G	XP_011523776.1:p.Ile148Met
XM_017025335.2:c.444T>G	XP_016880824.1:p.Ile148Met
NM_001319945.2:c.*82T>G	NP_001306874.1:n.*82T>G
NR_028581.2:n.1038T>G
NR_028582.2:n.903T>G
NM_001384165.1:c.444T>G	NP_001371094.1:p.Ile148Met
NM_001384166.1:c.444T>G	NP_001371095.1:p.Ile148Met
NM_001384167.1:c.444T>G	NP_001371096.1:p.Ile148Met
NM_001384168.1:c.444T>G	NP_001371097.1:p.Ile148Met
NM_138387.4:c.789T>G MANE Select	NP_612396.1:p.Ile263Met