Canonical Allele Identifier: CA399727412

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42152700G>C (hg19) ; chr17:g.44075332G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075332G>C , CM000679.2:g.44075332G>C	GRCh38
NC_000017.10:g.42152700G>C , CM000679.1:g.42152700G>C	GRCh37
NC_000017.9:g.39508226G>C	NCBI36
NG_015818.1:g.9603G>C , LRG_182:g.9603G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*395G>C	ENSP00000466983.1:n.*395G>C
ENST00000588558.6:c.*533G>C	ENSP00000467624.1:n.*533G>C
ENST00000590253.3:c.439G>C	ENSP00000465111.2:p.Asp147His
ENST00000593115.2:c.*579G>C	ENSP00000466821.1:n.*579G>C
ENST00000696383.1:c.213G>C	ENSP00000512593.1:p.Met71Ile
ENST00000696384.1:c.*118G>C	ENSP00000512594.1:n.*118G>C
ENST00000696385.1:c.*276G>C	ENSP00000512595.1:n.*276G>C
ENST00000696386.1:c.241G>C	ENSP00000512596.1:p.Asp81His
ENST00000696387.1:c.*185G>C	ENSP00000512597.1:n.*185G>C
ENST00000696388.1:c.*404G>C	ENSP00000512598.1:n.*404G>C
ENST00000696389.1:c.*589G>C	ENSP00000512599.1:n.*589G>C
ENST00000696390.1:c.348G>C	ENSP00000512600.1:p.Met116Ile
ENST00000696391.1:c.*414G>C	ENSP00000512601.1:n.*414G>C
ENST00000696392.1:c.558G>C	ENSP00000512602.1:p.Met186Ile
ENST00000696393.1:c.558G>C	ENSP00000512603.1:p.Met186Ile
ENST00000696405.1:c.558G>C	ENSP00000512607.1:p.Met186Ile
ENST00000269097.9:c.558G>C MANE Select	ENSP00000269097.3:p.Met186Ile
ENST00000269097.8:c.558G>C	ENSP00000269097.3:p.Met186Ile
ENST00000585361.5:c.*395G>C	ENSP00000466983.1:n.*395G>C
ENST00000588558.5:c.*533G>C	ENSP00000467624.1:n.*533G>C
ENST00000590253.2:c.60G>C
ENST00000590639.1:n.579G>C
ENST00000591696.1:c.450G>C	ENSP00000468677.1:p.Met150Ile
NM_138387.3:c.558G>C , LRG_182t1:c.558G>C	NP_612396.1:p.Met186Ile
NR_028581.1:n.988G>C
NR_028582.1:n.853G>C
XM_006722179.2:c.439G>C	XP_006722242.1:p.Asp147His
XM_011525473.1:c.213G>C	XP_011523775.1:p.Met71Ile
XM_011525474.1:c.213G>C	XP_011523776.1:p.Met71Ile
NM_001319945.1:c.439G>C	NP_001306874.1:p.Asp147His
XM_011525473.3:c.213G>C	XP_011523775.1:p.Met71Ile
XM_011525474.3:c.213G>C	XP_011523776.1:p.Met71Ile
XM_017025335.2:c.213G>C	XP_016880824.1:p.Met71Ile
NM_001319945.2:c.439G>C	NP_001306874.1:p.Asp147His
NR_028581.2:n.807G>C
NR_028582.2:n.672G>C
NM_001384165.1:c.213G>C	NP_001371094.1:p.Met71Ile
NM_001384166.1:c.213G>C	NP_001371095.1:p.Met71Ile
NM_001384167.1:c.213G>C	NP_001371096.1:p.Met71Ile
NM_001384168.1:c.213G>C	NP_001371097.1:p.Met71Ile
NM_138387.4:c.558G>C MANE Select	NP_612396.1:p.Met186Ile