Canonical Allele Identifier: CA399727350

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42152692T>C (hg19) ; chr17:g.44075324T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075324T>C , CM000679.2:g.44075324T>C	GRCh38
NC_000017.10:g.42152692T>C , CM000679.1:g.42152692T>C	GRCh37
NC_000017.9:g.39508218T>C	NCBI36
NG_015818.1:g.9595T>C , LRG_182:g.9595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*387T>C	ENSP00000466983.1:n.*387T>C
ENST00000588558.6:c.*525T>C	ENSP00000467624.1:n.*525T>C
ENST00000590253.3:c.431T>C	ENSP00000465111.2:p.Leu144Pro
ENST00000593115.2:c.*571T>C	ENSP00000466821.1:n.*571T>C
ENST00000696383.1:c.205T>C	ENSP00000512593.1:p.Trp69Arg
ENST00000696384.1:c.*110T>C	ENSP00000512594.1:n.*110T>C
ENST00000696385.1:c.*268T>C	ENSP00000512595.1:n.*268T>C
ENST00000696386.1:c.233T>C	ENSP00000512596.1:p.Leu78Pro
ENST00000696387.1:c.*177T>C	ENSP00000512597.1:n.*177T>C
ENST00000696388.1:c.*396T>C	ENSP00000512598.1:n.*396T>C
ENST00000696389.1:c.*581T>C	ENSP00000512599.1:n.*581T>C
ENST00000696390.1:c.340T>C	ENSP00000512600.1:p.Trp114Arg
ENST00000696391.1:c.*406T>C	ENSP00000512601.1:n.*406T>C
ENST00000696392.1:c.550T>C	ENSP00000512602.1:p.Trp184Arg
ENST00000696393.1:c.550T>C	ENSP00000512603.1:p.Trp184Arg
ENST00000696405.1:c.550T>C	ENSP00000512607.1:p.Trp184Arg
ENST00000269097.9:c.550T>C MANE Select	ENSP00000269097.3:p.Trp184Arg
ENST00000269097.8:c.550T>C	ENSP00000269097.3:p.Trp184Arg
ENST00000585361.5:c.*387T>C	ENSP00000466983.1:n.*387T>C
ENST00000588558.5:c.*525T>C	ENSP00000467624.1:n.*525T>C
ENST00000590253.2:c.52T>C
ENST00000590639.1:n.571T>C
ENST00000591696.1:c.442T>C	ENSP00000468677.1:p.Trp148Arg
NM_138387.3:c.550T>C , LRG_182t1:c.550T>C	NP_612396.1:p.Trp184Arg
NR_028581.1:n.980T>C
NR_028582.1:n.845T>C
XM_006722179.2:c.431T>C	XP_006722242.1:p.Leu144Pro
XM_011525473.1:c.205T>C	XP_011523775.1:p.Trp69Arg
XM_011525474.1:c.205T>C	XP_011523776.1:p.Trp69Arg
NM_001319945.1:c.431T>C	NP_001306874.1:p.Leu144Pro
XM_011525473.3:c.205T>C	XP_011523775.1:p.Trp69Arg
XM_011525474.3:c.205T>C	XP_011523776.1:p.Trp69Arg
XM_017025335.2:c.205T>C	XP_016880824.1:p.Trp69Arg
NM_001319945.2:c.431T>C	NP_001306874.1:p.Leu144Pro
NR_028581.2:n.799T>C
NR_028582.2:n.664T>C
NM_001384165.1:c.205T>C	NP_001371094.1:p.Trp69Arg
NM_001384166.1:c.205T>C	NP_001371095.1:p.Trp69Arg
NM_001384167.1:c.205T>C	NP_001371096.1:p.Trp69Arg
NM_001384168.1:c.205T>C	NP_001371097.1:p.Trp69Arg
NM_138387.4:c.550T>C MANE Select	NP_612396.1:p.Trp184Arg