Canonical Allele Identifier: CA500617231

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153163T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*630T>C	ENSP00000466983.1:n.*630T>C
ENST00000588558.6:c.*768T>C	ENSP00000467624.1:n.*768T>C
ENST00000590253.3:c.*86T>C	ENSP00000465111.2:n.*86T>C
ENST00000593115.2:c.*814T>C	ENSP00000466821.1:n.*814T>C
ENST00000696383.1:c.448T>C	ENSP00000512593.1:p.Leu150=
ENST00000696384.1:c.*353T>C	ENSP00000512594.1:n.*353T>C
ENST00000696385.1:c.*511T>C	ENSP00000512595.1:n.*511T>C
ENST00000696386.1:c.*86T>C	ENSP00000512596.1:n.*86T>C
ENST00000696387.1:c.*420T>C	ENSP00000512597.1:n.*420T>C
ENST00000696388.1:c.*639T>C	ENSP00000512598.1:n.*639T>C
ENST00000696389.1:c.*824T>C	ENSP00000512599.1:n.*824T>C
ENST00000696390.1:c.583T>C	ENSP00000512600.1:p.Leu195=
ENST00000696391.1:c.*649T>C	ENSP00000512601.1:n.*649T>C
ENST00000696392.1:c.793T>C	ENSP00000512602.1:p.Leu265=
ENST00000696393.1:c.793T>C	ENSP00000512603.1:p.Leu265=
ENST00000696405.1:c.677+344T>C	ENSP00000512607.1:n.677+344T>C
ENST00000269097.9:c.793T>C MANE Select	ENSP00000269097.3:p.Leu265=
ENST00000269097.8:c.793T>C	ENSP00000269097.3:p.Leu265=
ENST00000585361.5:c.*630T>C	ENSP00000466983.1:n.*630T>C
ENST00000588558.5:c.*768T>C	ENSP00000467624.1:n.*768T>C
ENST00000590253.2:c.295T>C
ENST00000590639.1:n.814T>C
ENST00000591696.1:c.685T>C	ENSP00000468677.1:p.Leu229=
NM_138387.3:c.793T>C , LRG_182t1:c.793T>C	NP_612396.1:p.Leu265=
NR_028581.1:n.1223T>C
NR_028582.1:n.1088T>C
XM_011525473.1:c.448T>C	XP_011523775.1:p.Leu150=
XM_011525474.1:c.448T>C	XP_011523776.1:p.Leu150=
NM_001319945.1:c.*86T>C	NP_001306874.1:n.*86T>C
XM_011525473.3:c.448T>C	XP_011523775.1:p.Leu150=
XM_011525474.3:c.448T>C	XP_011523776.1:p.Leu150=
XM_017025335.2:c.448T>C	XP_016880824.1:p.Leu150=
NM_001319945.2:c.*86T>C	NP_001306874.1:n.*86T>C
NR_028581.2:n.1042T>C
NR_028582.2:n.907T>C
NM_001384165.1:c.448T>C	NP_001371094.1:p.Leu150=
NM_001384166.1:c.448T>C	NP_001371095.1:p.Leu150=
NM_001384167.1:c.448T>C	NP_001371096.1:p.Leu150=
NM_001384168.1:c.448T>C	NP_001371097.1:p.Leu150=
NM_138387.4:c.793T>C MANE Select	NP_612396.1:p.Leu265=