Canonical Allele Identifier: CA8596130

Gene: G6PC3

Linked Data

• dbSNP Id: rs781564534
• ExAC: 17:42153066 C / T
• gnomAD v2: 17-42153066-C-T
• gnomAD v4: 17-44075698-C-T
• MyVariant Identifiers: chr17:g.42153066C>T (hg19) ; chr17:g.44075698C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*533C>T	ENSP00000466983.1:n.*533C>T
ENST00000588558.6:c.*671C>T	ENSP00000467624.1:n.*671C>T
ENST00000590253.3:c.577C>T	ENSP00000465111.2:p.Gln193Ter
ENST00000593115.2:c.*717C>T	ENSP00000466821.1:n.*717C>T
ENST00000696383.1:c.351C>T	ENSP00000512593.1:p.Phe117=
ENST00000696384.1:c.*256C>T	ENSP00000512594.1:n.*256C>T
ENST00000696385.1:c.*414C>T	ENSP00000512595.1:n.*414C>T
ENST00000696386.1:c.379C>T	ENSP00000512596.1:p.Gln127Ter
ENST00000696387.1:c.*323C>T	ENSP00000512597.1:n.*323C>T
ENST00000696388.1:c.*542C>T	ENSP00000512598.1:n.*542C>T
ENST00000696389.1:c.*727C>T	ENSP00000512599.1:n.*727C>T
ENST00000696390.1:c.486C>T	ENSP00000512600.1:p.Phe162=
ENST00000696391.1:c.*552C>T	ENSP00000512601.1:n.*552C>T
ENST00000696392.1:c.696C>T	ENSP00000512602.1:p.Phe232=
ENST00000696393.1:c.696C>T	ENSP00000512603.1:p.Phe232=
ENST00000696405.1:c.677+247C>T	ENSP00000512607.1:n.677+247C>T
ENST00000269097.9:c.696C>T MANE Select	ENSP00000269097.3:p.Phe232=
ENST00000269097.8:c.696C>T	ENSP00000269097.3:p.Phe232=
ENST00000585361.5:c.*533C>T	ENSP00000466983.1:n.*533C>T
ENST00000588558.5:c.*671C>T	ENSP00000467624.1:n.*671C>T
ENST00000590253.2:c.198C>T
ENST00000590639.1:n.717C>T
ENST00000591696.1:c.588C>T	ENSP00000468677.1:p.Phe196=
NM_138387.3:c.696C>T , LRG_182t1:c.696C>T	NP_612396.1:p.Phe232=
NR_028581.1:n.1126C>T
NR_028582.1:n.991C>T
XM_006722179.2:c.577C>T	XP_006722242.1:p.Gln193Ter
XM_011525473.1:c.351C>T	XP_011523775.1:p.Phe117=
XM_011525474.1:c.351C>T	XP_011523776.1:p.Phe117=
NM_001319945.1:c.577C>T	NP_001306874.1:p.Gln193Ter
XM_011525473.3:c.351C>T	XP_011523775.1:p.Phe117=
XM_011525474.3:c.351C>T	XP_011523776.1:p.Phe117=
XM_017025335.2:c.351C>T	XP_016880824.1:p.Phe117=
NM_001319945.2:c.577C>T	NP_001306874.1:p.Gln193Ter
NR_028581.2:n.945C>T
NR_028582.2:n.810C>T
NM_001384165.1:c.351C>T	NP_001371094.1:p.Phe117=
NM_001384166.1:c.351C>T	NP_001371095.1:p.Phe117=
NM_001384167.1:c.351C>T	NP_001371096.1:p.Phe117=
NM_001384168.1:c.351C>T	NP_001371097.1:p.Phe117=
NM_138387.4:c.696C>T MANE Select	NP_612396.1:p.Phe232=