Canonical Allele Identifier: CA399729235

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153113T>G (hg19) ; chr17:g.44075745T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075745T>G , CM000679.2:g.44075745T>G	GRCh38
NC_000017.10:g.42153113T>G , CM000679.1:g.42153113T>G	GRCh37
NC_000017.9:g.39508639T>G	NCBI36
NG_015818.1:g.10016T>G , LRG_182:g.10016T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*580T>G	ENSP00000466983.1:n.*580T>G
ENST00000588558.6:c.*718T>G	ENSP00000467624.1:n.*718T>G
ENST00000590253.3:c.*36T>G	ENSP00000465111.2:n.*36T>G
ENST00000593115.2:c.*764T>G	ENSP00000466821.1:n.*764T>G
ENST00000696383.1:c.398T>G	ENSP00000512593.1:p.Phe133Cys
ENST00000696384.1:c.*303T>G	ENSP00000512594.1:n.*303T>G
ENST00000696385.1:c.*461T>G	ENSP00000512595.1:n.*461T>G
ENST00000696386.1:c.*36T>G	ENSP00000512596.1:n.*36T>G
ENST00000696387.1:c.*370T>G	ENSP00000512597.1:n.*370T>G
ENST00000696388.1:c.*589T>G	ENSP00000512598.1:n.*589T>G
ENST00000696389.1:c.*774T>G	ENSP00000512599.1:n.*774T>G
ENST00000696390.1:c.533T>G	ENSP00000512600.1:p.Phe178Cys
ENST00000696391.1:c.*599T>G	ENSP00000512601.1:n.*599T>G
ENST00000696392.1:c.743T>G	ENSP00000512602.1:p.Phe248Cys
ENST00000696393.1:c.743T>G	ENSP00000512603.1:p.Phe248Cys
ENST00000696405.1:c.677+294T>G	ENSP00000512607.1:n.677+294T>G
ENST00000269097.9:c.743T>G MANE Select	ENSP00000269097.3:p.Phe248Cys
ENST00000269097.8:c.743T>G	ENSP00000269097.3:p.Phe248Cys
ENST00000585361.5:c.*580T>G	ENSP00000466983.1:n.*580T>G
ENST00000588558.5:c.*718T>G	ENSP00000467624.1:n.*718T>G
ENST00000590253.2:c.245T>G
ENST00000590639.1:n.764T>G
ENST00000591696.1:c.635T>G	ENSP00000468677.1:p.Phe212Cys
NM_138387.3:c.743T>G , LRG_182t1:c.743T>G	NP_612396.1:p.Phe248Cys
NR_028581.1:n.1173T>G
NR_028582.1:n.1038T>G
XM_011525473.1:c.398T>G	XP_011523775.1:p.Phe133Cys
XM_011525474.1:c.398T>G	XP_011523776.1:p.Phe133Cys
NM_001319945.1:c.*36T>G	NP_001306874.1:n.*36T>G
XM_011525473.3:c.398T>G	XP_011523775.1:p.Phe133Cys
XM_011525474.3:c.398T>G	XP_011523776.1:p.Phe133Cys
XM_017025335.2:c.398T>G	XP_016880824.1:p.Phe133Cys
NM_001319945.2:c.*36T>G	NP_001306874.1:n.*36T>G
NR_028581.2:n.992T>G
NR_028582.2:n.857T>G
NM_001384165.1:c.398T>G	NP_001371094.1:p.Phe133Cys
NM_001384166.1:c.398T>G	NP_001371095.1:p.Phe133Cys
NM_001384167.1:c.398T>G	NP_001371096.1:p.Phe133Cys
NM_001384168.1:c.398T>G	NP_001371097.1:p.Phe133Cys
NM_138387.4:c.743T>G MANE Select	NP_612396.1:p.Phe248Cys