Canonical Allele Identifier: CA399727420

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42152701A>T (hg19) ; chr17:g.44075333A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075333A>T , CM000679.2:g.44075333A>T	GRCh38
NC_000017.10:g.42152701A>T , CM000679.1:g.42152701A>T	GRCh37
NC_000017.9:g.39508227A>T	NCBI36
NG_015818.1:g.9604A>T , LRG_182:g.9604A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*396A>T	ENSP00000466983.1:n.*396A>T
ENST00000588558.6:c.*534A>T	ENSP00000467624.1:n.*534A>T
ENST00000590253.3:c.440A>T	ENSP00000465111.2:p.Asp147Val
ENST00000593115.2:c.*580A>T	ENSP00000466821.1:n.*580A>T
ENST00000696383.1:c.214A>T	ENSP00000512593.1:p.Thr72Ser
ENST00000696384.1:c.*119A>T	ENSP00000512594.1:n.*119A>T
ENST00000696385.1:c.*277A>T	ENSP00000512595.1:n.*277A>T
ENST00000696386.1:c.242A>T	ENSP00000512596.1:p.Asp81Val
ENST00000696387.1:c.*186A>T	ENSP00000512597.1:n.*186A>T
ENST00000696388.1:c.*405A>T	ENSP00000512598.1:n.*405A>T
ENST00000696389.1:c.*590A>T	ENSP00000512599.1:n.*590A>T
ENST00000696390.1:c.349A>T	ENSP00000512600.1:p.Thr117Ser
ENST00000696391.1:c.*415A>T	ENSP00000512601.1:n.*415A>T
ENST00000696392.1:c.559A>T	ENSP00000512602.1:p.Thr187Ser
ENST00000696393.1:c.559A>T	ENSP00000512603.1:p.Thr187Ser
ENST00000696405.1:c.559A>T	ENSP00000512607.1:p.Thr187Ser
ENST00000269097.9:c.559A>T MANE Select	ENSP00000269097.3:p.Thr187Ser
ENST00000269097.8:c.559A>T	ENSP00000269097.3:p.Thr187Ser
ENST00000585361.5:c.*396A>T	ENSP00000466983.1:n.*396A>T
ENST00000588558.5:c.*534A>T	ENSP00000467624.1:n.*534A>T
ENST00000590253.2:c.61A>T
ENST00000590639.1:n.580A>T
ENST00000591696.1:c.451A>T	ENSP00000468677.1:p.Thr151Ser
NM_138387.3:c.559A>T , LRG_182t1:c.559A>T	NP_612396.1:p.Thr187Ser
NR_028581.1:n.989A>T
NR_028582.1:n.854A>T
XM_006722179.2:c.440A>T	XP_006722242.1:p.Asp147Val
XM_011525473.1:c.214A>T	XP_011523775.1:p.Thr72Ser
XM_011525474.1:c.214A>T	XP_011523776.1:p.Thr72Ser
NM_001319945.1:c.440A>T	NP_001306874.1:p.Asp147Val
XM_011525473.3:c.214A>T	XP_011523775.1:p.Thr72Ser
XM_011525474.3:c.214A>T	XP_011523776.1:p.Thr72Ser
XM_017025335.2:c.214A>T	XP_016880824.1:p.Thr72Ser
NM_001319945.2:c.440A>T	NP_001306874.1:p.Asp147Val
NR_028581.2:n.808A>T
NR_028582.2:n.673A>T
NM_001384165.1:c.214A>T	NP_001371094.1:p.Thr72Ser
NM_001384166.1:c.214A>T	NP_001371095.1:p.Thr72Ser
NM_001384167.1:c.214A>T	NP_001371096.1:p.Thr72Ser
NM_001384168.1:c.214A>T	NP_001371097.1:p.Thr72Ser
NM_138387.4:c.559A>T MANE Select	NP_612396.1:p.Thr187Ser