Canonical Allele Identifier: CA399729135

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153069G>T (hg19) ; chr17:g.44075701G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075701G>T , CM000679.2:g.44075701G>T	GRCh38
NC_000017.10:g.42153069G>T , CM000679.1:g.42153069G>T	GRCh37
NC_000017.9:g.39508595G>T	NCBI36
NG_015818.1:g.9972G>T , LRG_182:g.9972G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*536G>T	ENSP00000466983.1:n.*536G>T
ENST00000588558.6:c.*674G>T	ENSP00000467624.1:n.*674G>T
ENST00000590253.3:c.580G>T	ENSP00000465111.2:p.Val194Leu
ENST00000593115.2:c.*720G>T	ENSP00000466821.1:n.*720G>T
ENST00000696383.1:c.354G>T	ENSP00000512593.1:p.Lys118Asn
ENST00000696384.1:c.*259G>T	ENSP00000512594.1:n.*259G>T
ENST00000696385.1:c.*417G>T	ENSP00000512595.1:n.*417G>T
ENST00000696386.1:c.382G>T	ENSP00000512596.1:p.Val128Leu
ENST00000696387.1:c.*326G>T	ENSP00000512597.1:n.*326G>T
ENST00000696388.1:c.*545G>T	ENSP00000512598.1:n.*545G>T
ENST00000696389.1:c.*730G>T	ENSP00000512599.1:n.*730G>T
ENST00000696390.1:c.489G>T	ENSP00000512600.1:p.Lys163Asn
ENST00000696391.1:c.*555G>T	ENSP00000512601.1:n.*555G>T
ENST00000696392.1:c.699G>T	ENSP00000512602.1:p.Lys233Asn
ENST00000696393.1:c.699G>T	ENSP00000512603.1:p.Lys233Asn
ENST00000696405.1:c.677+250G>T	ENSP00000512607.1:n.677+250G>T
ENST00000269097.9:c.699G>T MANE Select	ENSP00000269097.3:p.Lys233Asn
ENST00000269097.8:c.699G>T	ENSP00000269097.3:p.Lys233Asn
ENST00000585361.5:c.*536G>T	ENSP00000466983.1:n.*536G>T
ENST00000588558.5:c.*674G>T	ENSP00000467624.1:n.*674G>T
ENST00000590253.2:c.201G>T
ENST00000590639.1:n.720G>T
ENST00000591696.1:c.591G>T	ENSP00000468677.1:p.Lys197Asn
NM_138387.3:c.699G>T , LRG_182t1:c.699G>T	NP_612396.1:p.Lys233Asn
NR_028581.1:n.1129G>T
NR_028582.1:n.994G>T
XM_006722179.2:c.580G>T	XP_006722242.1:p.Val194Leu
XM_011525473.1:c.354G>T	XP_011523775.1:p.Lys118Asn
XM_011525474.1:c.354G>T	XP_011523776.1:p.Lys118Asn
NM_001319945.1:c.580G>T	NP_001306874.1:p.Val194Leu
XM_011525473.3:c.354G>T	XP_011523775.1:p.Lys118Asn
XM_011525474.3:c.354G>T	XP_011523776.1:p.Lys118Asn
XM_017025335.2:c.354G>T	XP_016880824.1:p.Lys118Asn
NM_001319945.2:c.580G>T	NP_001306874.1:p.Val194Leu
NR_028581.2:n.948G>T
NR_028582.2:n.813G>T
NM_001384165.1:c.354G>T	NP_001371094.1:p.Lys118Asn
NM_001384166.1:c.354G>T	NP_001371095.1:p.Lys118Asn
NM_001384167.1:c.354G>T	NP_001371096.1:p.Lys118Asn
NM_001384168.1:c.354G>T	NP_001371097.1:p.Lys118Asn
NM_138387.4:c.699G>T MANE Select	NP_612396.1:p.Lys233Asn