Canonical Allele Identifier: CA399729515

Gene: G6PC3

Linked Data

• gnomAD v4: 17-44075886-G-T
• COSMIC: COSM6348447
• MyVariant Identifiers: chr17:g.42153254G>T (hg19) ; chr17:g.44075886G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075886G>T , CM000679.2:g.44075886G>T	GRCh38
NC_000017.10:g.42153254G>T , CM000679.1:g.42153254G>T	GRCh37
NC_000017.9:g.39508780G>T	NCBI36
NG_015818.1:g.10157G>T , LRG_182:g.10157G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*721G>T	ENSP00000466983.1:n.*721G>T
ENST00000588558.6:c.*859G>T	ENSP00000467624.1:n.*859G>T
ENST00000590253.3:c.*177G>T	ENSP00000465111.2:n.*177G>T
ENST00000593115.2:c.*905G>T	ENSP00000466821.1:n.*905G>T
ENST00000696383.1:c.539G>T	ENSP00000512593.1:p.Gly180Val
ENST00000696384.1:c.*444G>T	ENSP00000512594.1:n.*444G>T
ENST00000696385.1:c.*602G>T	ENSP00000512595.1:n.*602G>T
ENST00000696386.1:c.*177G>T	ENSP00000512596.1:n.*177G>T
ENST00000696387.1:c.*511G>T	ENSP00000512597.1:n.*511G>T
ENST00000696388.1:c.*730G>T	ENSP00000512598.1:n.*730G>T
ENST00000696389.1:c.*915G>T	ENSP00000512599.1:n.*915G>T
ENST00000696390.1:c.674G>T	ENSP00000512600.1:p.Gly225Val
ENST00000696391.1:c.*740G>T	ENSP00000512601.1:n.*740G>T
ENST00000696392.1:c.816+68G>T	ENSP00000512602.1:n.816+68G>T
ENST00000696393.1:c.816+68G>T	ENSP00000512603.1:n.816+68G>T
ENST00000696405.1:c.677+435G>T	ENSP00000512607.1:n.677+435G>T
ENST00000269097.9:c.884G>T MANE Select	ENSP00000269097.3:p.Gly295Val
ENST00000269097.8:c.884G>T	ENSP00000269097.3:p.Gly295Val
ENST00000585361.5:c.*721G>T	ENSP00000466983.1:n.*721G>T
ENST00000588558.5:c.*859G>T	ENSP00000467624.1:n.*859G>T
ENST00000590253.2:c.386G>T
NM_138387.3:c.884G>T , LRG_182t1:c.884G>T	NP_612396.1:p.Gly295Val
NR_028581.1:n.1314G>T
NR_028582.1:n.1179G>T
XM_011525473.1:c.539G>T	XP_011523775.1:p.Gly180Val
XM_011525474.1:c.539G>T	XP_011523776.1:p.Gly180Val
NM_001319945.1:c.*177G>T	NP_001306874.1:n.*177G>T
XM_011525473.3:c.539G>T	XP_011523775.1:p.Gly180Val
XM_011525474.3:c.539G>T	XP_011523776.1:p.Gly180Val
XM_017025335.2:c.539G>T	XP_016880824.1:p.Gly180Val
NM_001319945.2:c.*177G>T	NP_001306874.1:n.*177G>T
NR_028581.2:n.1133G>T
NR_028582.2:n.998G>T
NM_001384165.1:c.539G>T	NP_001371094.1:p.Gly180Val
NM_001384166.1:c.539G>T	NP_001371095.1:p.Gly180Val
NM_001384167.1:c.539G>T	NP_001371096.1:p.Gly180Val
NM_001384168.1:c.539G>T	NP_001371097.1:p.Gly180Val
NM_138387.4:c.884G>T MANE Select	NP_612396.1:p.Gly295Val