Canonical Allele Identifier: CA399729329

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153163T>A (hg19) ; chr17:g.44075795T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075795T>A , CM000679.2:g.44075795T>A	GRCh38
NC_000017.10:g.42153163T>A , CM000679.1:g.42153163T>A	GRCh37
NC_000017.9:g.39508689T>A	NCBI36
NG_015818.1:g.10066T>A , LRG_182:g.10066T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*630T>A	ENSP00000466983.1:n.*630T>A
ENST00000588558.6:c.*768T>A	ENSP00000467624.1:n.*768T>A
ENST00000590253.3:c.*86T>A	ENSP00000465111.2:n.*86T>A
ENST00000593115.2:c.*814T>A	ENSP00000466821.1:n.*814T>A
ENST00000696383.1:c.448T>A	ENSP00000512593.1:p.Leu150Met
ENST00000696384.1:c.*353T>A	ENSP00000512594.1:n.*353T>A
ENST00000696385.1:c.*511T>A	ENSP00000512595.1:n.*511T>A
ENST00000696386.1:c.*86T>A	ENSP00000512596.1:n.*86T>A
ENST00000696387.1:c.*420T>A	ENSP00000512597.1:n.*420T>A
ENST00000696388.1:c.*639T>A	ENSP00000512598.1:n.*639T>A
ENST00000696389.1:c.*824T>A	ENSP00000512599.1:n.*824T>A
ENST00000696390.1:c.583T>A	ENSP00000512600.1:p.Leu195Met
ENST00000696391.1:c.*649T>A	ENSP00000512601.1:n.*649T>A
ENST00000696392.1:c.793T>A	ENSP00000512602.1:p.Leu265Met
ENST00000696393.1:c.793T>A	ENSP00000512603.1:p.Leu265Met
ENST00000696405.1:c.677+344T>A	ENSP00000512607.1:n.677+344T>A
ENST00000269097.9:c.793T>A MANE Select	ENSP00000269097.3:p.Leu265Met
ENST00000269097.8:c.793T>A	ENSP00000269097.3:p.Leu265Met
ENST00000585361.5:c.*630T>A	ENSP00000466983.1:n.*630T>A
ENST00000588558.5:c.*768T>A	ENSP00000467624.1:n.*768T>A
ENST00000590253.2:c.295T>A
ENST00000590639.1:n.814T>A
ENST00000591696.1:c.685T>A	ENSP00000468677.1:p.Leu229Met
NM_138387.3:c.793T>A , LRG_182t1:c.793T>A	NP_612396.1:p.Leu265Met
NR_028581.1:n.1223T>A
NR_028582.1:n.1088T>A
XM_011525473.1:c.448T>A	XP_011523775.1:p.Leu150Met
XM_011525474.1:c.448T>A	XP_011523776.1:p.Leu150Met
NM_001319945.1:c.*86T>A	NP_001306874.1:n.*86T>A
XM_011525473.3:c.448T>A	XP_011523775.1:p.Leu150Met
XM_011525474.3:c.448T>A	XP_011523776.1:p.Leu150Met
XM_017025335.2:c.448T>A	XP_016880824.1:p.Leu150Met
NM_001319945.2:c.*86T>A	NP_001306874.1:n.*86T>A
NR_028581.2:n.1042T>A
NR_028582.2:n.907T>A
NM_001384165.1:c.448T>A	NP_001371094.1:p.Leu150Met
NM_001384166.1:c.448T>A	NP_001371095.1:p.Leu150Met
NM_001384167.1:c.448T>A	NP_001371096.1:p.Leu150Met
NM_001384168.1:c.448T>A	NP_001371097.1:p.Leu150Met
NM_138387.4:c.793T>A MANE Select	NP_612396.1:p.Leu265Met