Canonical Allele Identifier: CA399729315

Gene: G6PC3

Linked Data

• gnomAD v4: 17-44075787-G-T
• MyVariant Identifiers: chr17:g.42153155G>T (hg19) ; chr17:g.44075787G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075787G>T , CM000679.2:g.44075787G>T	GRCh38
NC_000017.10:g.42153155G>T , CM000679.1:g.42153155G>T	GRCh37
NC_000017.9:g.39508681G>T	NCBI36
NG_015818.1:g.10058G>T , LRG_182:g.10058G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*622G>T	ENSP00000466983.1:n.*622G>T
ENST00000588558.6:c.*760G>T	ENSP00000467624.1:n.*760G>T
ENST00000590253.3:c.*78G>T	ENSP00000465111.2:n.*78G>T
ENST00000593115.2:c.*806G>T	ENSP00000466821.1:n.*806G>T
ENST00000696383.1:c.440G>T	ENSP00000512593.1:p.Gly147Val
ENST00000696384.1:c.*345G>T	ENSP00000512594.1:n.*345G>T
ENST00000696385.1:c.*503G>T	ENSP00000512595.1:n.*503G>T
ENST00000696386.1:c.*78G>T	ENSP00000512596.1:n.*78G>T
ENST00000696387.1:c.*412G>T	ENSP00000512597.1:n.*412G>T
ENST00000696388.1:c.*631G>T	ENSP00000512598.1:n.*631G>T
ENST00000696389.1:c.*816G>T	ENSP00000512599.1:n.*816G>T
ENST00000696390.1:c.575G>T	ENSP00000512600.1:p.Gly192Val
ENST00000696391.1:c.*641G>T	ENSP00000512601.1:n.*641G>T
ENST00000696392.1:c.785G>T	ENSP00000512602.1:p.Gly262Val
ENST00000696393.1:c.785G>T	ENSP00000512603.1:p.Gly262Val
ENST00000696405.1:c.677+336G>T	ENSP00000512607.1:n.677+336G>T
ENST00000269097.9:c.785G>T MANE Select	ENSP00000269097.3:p.Gly262Val
ENST00000269097.8:c.785G>T	ENSP00000269097.3:p.Gly262Val
ENST00000585361.5:c.*622G>T	ENSP00000466983.1:n.*622G>T
ENST00000588558.5:c.*760G>T	ENSP00000467624.1:n.*760G>T
ENST00000590253.2:c.287G>T
ENST00000590639.1:n.806G>T
ENST00000591696.1:c.677G>T	ENSP00000468677.1:p.Gly226Val
NM_138387.3:c.785G>T , LRG_182t1:c.785G>T	NP_612396.1:p.Gly262Val
NR_028581.1:n.1215G>T
NR_028582.1:n.1080G>T
XM_011525473.1:c.440G>T	XP_011523775.1:p.Gly147Val
XM_011525474.1:c.440G>T	XP_011523776.1:p.Gly147Val
NM_001319945.1:c.*78G>T	NP_001306874.1:n.*78G>T
XM_011525473.3:c.440G>T	XP_011523775.1:p.Gly147Val
XM_011525474.3:c.440G>T	XP_011523776.1:p.Gly147Val
XM_017025335.2:c.440G>T	XP_016880824.1:p.Gly147Val
NM_001319945.2:c.*78G>T	NP_001306874.1:n.*78G>T
NR_028581.2:n.1034G>T
NR_028582.2:n.899G>T
NM_001384165.1:c.440G>T	NP_001371094.1:p.Gly147Val
NM_001384166.1:c.440G>T	NP_001371095.1:p.Gly147Val
NM_001384167.1:c.440G>T	NP_001371096.1:p.Gly147Val
NM_001384168.1:c.440G>T	NP_001371097.1:p.Gly147Val
NM_138387.4:c.785G>T MANE Select	NP_612396.1:p.Gly262Val