Canonical Allele Identifier: CA399729127

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153066C>A (hg19) ; chr17:g.44075698C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075698C>A , CM000679.2:g.44075698C>A	GRCh38
NC_000017.10:g.42153066C>A , CM000679.1:g.42153066C>A	GRCh37
NC_000017.9:g.39508592C>A	NCBI36
NG_015818.1:g.9969C>A , LRG_182:g.9969C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*533C>A	ENSP00000466983.1:n.*533C>A
ENST00000588558.6:c.*671C>A	ENSP00000467624.1:n.*671C>A
ENST00000590253.3:c.577C>A	ENSP00000465111.2:p.Gln193Lys
ENST00000593115.2:c.*717C>A	ENSP00000466821.1:n.*717C>A
ENST00000696383.1:c.351C>A	ENSP00000512593.1:p.Phe117Leu
ENST00000696384.1:c.*256C>A	ENSP00000512594.1:n.*256C>A
ENST00000696385.1:c.*414C>A	ENSP00000512595.1:n.*414C>A
ENST00000696386.1:c.379C>A	ENSP00000512596.1:p.Gln127Lys
ENST00000696387.1:c.*323C>A	ENSP00000512597.1:n.*323C>A
ENST00000696388.1:c.*542C>A	ENSP00000512598.1:n.*542C>A
ENST00000696389.1:c.*727C>A	ENSP00000512599.1:n.*727C>A
ENST00000696390.1:c.486C>A	ENSP00000512600.1:p.Phe162Leu
ENST00000696391.1:c.*552C>A	ENSP00000512601.1:n.*552C>A
ENST00000696392.1:c.696C>A	ENSP00000512602.1:p.Phe232Leu
ENST00000696393.1:c.696C>A	ENSP00000512603.1:p.Phe232Leu
ENST00000696405.1:c.677+247C>A	ENSP00000512607.1:n.677+247C>A
ENST00000269097.9:c.696C>A MANE Select	ENSP00000269097.3:p.Phe232Leu
ENST00000269097.8:c.696C>A	ENSP00000269097.3:p.Phe232Leu
ENST00000585361.5:c.*533C>A	ENSP00000466983.1:n.*533C>A
ENST00000588558.5:c.*671C>A	ENSP00000467624.1:n.*671C>A
ENST00000590253.2:c.198C>A
ENST00000590639.1:n.717C>A
ENST00000591696.1:c.588C>A	ENSP00000468677.1:p.Phe196Leu
NM_138387.3:c.696C>A , LRG_182t1:c.696C>A	NP_612396.1:p.Phe232Leu
NR_028581.1:n.1126C>A
NR_028582.1:n.991C>A
XM_006722179.2:c.577C>A	XP_006722242.1:p.Gln193Lys
XM_011525473.1:c.351C>A	XP_011523775.1:p.Phe117Leu
XM_011525474.1:c.351C>A	XP_011523776.1:p.Phe117Leu
NM_001319945.1:c.577C>A	NP_001306874.1:p.Gln193Lys
XM_011525473.3:c.351C>A	XP_011523775.1:p.Phe117Leu
XM_011525474.3:c.351C>A	XP_011523776.1:p.Phe117Leu
XM_017025335.2:c.351C>A	XP_016880824.1:p.Phe117Leu
NM_001319945.2:c.577C>A	NP_001306874.1:p.Gln193Lys
NR_028581.2:n.945C>A
NR_028582.2:n.810C>A
NM_001384165.1:c.351C>A	NP_001371094.1:p.Phe117Leu
NM_001384166.1:c.351C>A	NP_001371095.1:p.Phe117Leu
NM_001384167.1:c.351C>A	NP_001371096.1:p.Phe117Leu
NM_001384168.1:c.351C>A	NP_001371097.1:p.Phe117Leu
NM_138387.4:c.696C>A MANE Select	NP_612396.1:p.Phe232Leu