Canonical Allele Identifier: CA399729126

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153065T>G (hg19) ; chr17:g.44075697T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075697T>G , CM000679.2:g.44075697T>G	GRCh38
NC_000017.10:g.42153065T>G , CM000679.1:g.42153065T>G	GRCh37
NC_000017.9:g.39508591T>G	NCBI36
NG_015818.1:g.9968T>G , LRG_182:g.9968T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*532T>G	ENSP00000466983.1:n.*532T>G
ENST00000588558.6:c.*670T>G	ENSP00000467624.1:n.*670T>G
ENST00000590253.3:c.576T>G	ENSP00000465111.2:p.Leu192=
ENST00000593115.2:c.*716T>G	ENSP00000466821.1:n.*716T>G
ENST00000696383.1:c.350T>G	ENSP00000512593.1:p.Phe117Cys
ENST00000696384.1:c.*255T>G	ENSP00000512594.1:n.*255T>G
ENST00000696385.1:c.*413T>G	ENSP00000512595.1:n.*413T>G
ENST00000696386.1:c.378T>G	ENSP00000512596.1:p.Leu126=
ENST00000696387.1:c.*322T>G	ENSP00000512597.1:n.*322T>G
ENST00000696388.1:c.*541T>G	ENSP00000512598.1:n.*541T>G
ENST00000696389.1:c.*726T>G	ENSP00000512599.1:n.*726T>G
ENST00000696390.1:c.485T>G	ENSP00000512600.1:p.Phe162Cys
ENST00000696391.1:c.*551T>G	ENSP00000512601.1:n.*551T>G
ENST00000696392.1:c.695T>G	ENSP00000512602.1:p.Phe232Cys
ENST00000696393.1:c.695T>G	ENSP00000512603.1:p.Phe232Cys
ENST00000696405.1:c.677+246T>G	ENSP00000512607.1:n.677+246T>G
ENST00000269097.9:c.695T>G MANE Select	ENSP00000269097.3:p.Phe232Cys
ENST00000269097.8:c.695T>G	ENSP00000269097.3:p.Phe232Cys
ENST00000585361.5:c.*532T>G	ENSP00000466983.1:n.*532T>G
ENST00000588558.5:c.*670T>G	ENSP00000467624.1:n.*670T>G
ENST00000590253.2:c.197T>G
ENST00000590639.1:n.716T>G
ENST00000591696.1:c.587T>G	ENSP00000468677.1:p.Phe196Cys
NM_138387.3:c.695T>G , LRG_182t1:c.695T>G	NP_612396.1:p.Phe232Cys
NR_028581.1:n.1125T>G
NR_028582.1:n.990T>G
XM_006722179.2:c.576T>G	XP_006722242.1:p.Leu192=
XM_011525473.1:c.350T>G	XP_011523775.1:p.Phe117Cys
XM_011525474.1:c.350T>G	XP_011523776.1:p.Phe117Cys
NM_001319945.1:c.576T>G	NP_001306874.1:p.Leu192=
XM_011525473.3:c.350T>G	XP_011523775.1:p.Phe117Cys
XM_011525474.3:c.350T>G	XP_011523776.1:p.Phe117Cys
XM_017025335.2:c.350T>G	XP_016880824.1:p.Phe117Cys
NM_001319945.2:c.576T>G	NP_001306874.1:p.Leu192=
NR_028581.2:n.944T>G
NR_028582.2:n.809T>G
NM_001384165.1:c.350T>G	NP_001371094.1:p.Phe117Cys
NM_001384166.1:c.350T>G	NP_001371095.1:p.Phe117Cys
NM_001384167.1:c.350T>G	NP_001371096.1:p.Phe117Cys
NM_001384168.1:c.350T>G	NP_001371097.1:p.Phe117Cys
NM_138387.4:c.695T>G MANE Select	NP_612396.1:p.Phe232Cys