Canonical Allele Identifier: CA399729153

Gene: G6PC3

Linked Data

• gnomAD v4: 17-44075708-G-C
• MyVariant Identifiers: chr17:g.42153076G>C (hg19) ; chr17:g.44075708G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075708G>C , CM000679.2:g.44075708G>C	GRCh38
NC_000017.10:g.42153076G>C , CM000679.1:g.42153076G>C	GRCh37
NC_000017.9:g.39508602G>C	NCBI36
NG_015818.1:g.9979G>C , LRG_182:g.9979G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*543G>C	ENSP00000466983.1:n.*543G>C
ENST00000588558.6:c.*681G>C	ENSP00000467624.1:n.*681G>C
ENST00000590253.3:c.587G>C	ENSP00000465111.2:p.Ter196Ser
ENST00000593115.2:c.*727G>C	ENSP00000466821.1:n.*727G>C
ENST00000696383.1:c.361G>C	ENSP00000512593.1:p.Glu121Gln
ENST00000696384.1:c.*266G>C	ENSP00000512594.1:n.*266G>C
ENST00000696385.1:c.*424G>C	ENSP00000512595.1:n.*424G>C
ENST00000696386.1:c.389G>C	ENSP00000512596.1:p.Ter130Ser
ENST00000696387.1:c.*333G>C	ENSP00000512597.1:n.*333G>C
ENST00000696388.1:c.*552G>C	ENSP00000512598.1:n.*552G>C
ENST00000696389.1:c.*737G>C	ENSP00000512599.1:n.*737G>C
ENST00000696390.1:c.496G>C	ENSP00000512600.1:p.Glu166Gln
ENST00000696391.1:c.*562G>C	ENSP00000512601.1:n.*562G>C
ENST00000696392.1:c.706G>C	ENSP00000512602.1:p.Glu236Gln
ENST00000696393.1:c.706G>C	ENSP00000512603.1:p.Glu236Gln
ENST00000696405.1:c.677+257G>C	ENSP00000512607.1:n.677+257G>C
ENST00000269097.9:c.706G>C MANE Select	ENSP00000269097.3:p.Glu236Gln
ENST00000269097.8:c.706G>C	ENSP00000269097.3:p.Glu236Gln
ENST00000585361.5:c.*543G>C	ENSP00000466983.1:n.*543G>C
ENST00000588558.5:c.*681G>C	ENSP00000467624.1:n.*681G>C
ENST00000590253.2:c.208G>C
ENST00000590639.1:n.727G>C
ENST00000591696.1:c.598G>C	ENSP00000468677.1:p.Glu200Gln
NM_138387.3:c.706G>C , LRG_182t1:c.706G>C	NP_612396.1:p.Glu236Gln
NR_028581.1:n.1136G>C
NR_028582.1:n.1001G>C
XM_006722179.2:c.587G>C	XP_006722242.1:p.Ter196Ser
XM_011525473.1:c.361G>C	XP_011523775.1:p.Glu121Gln
XM_011525474.1:c.361G>C	XP_011523776.1:p.Glu121Gln
NM_001319945.1:c.587G>C	NP_001306874.1:p.Ter196Ser
XM_011525473.3:c.361G>C	XP_011523775.1:p.Glu121Gln
XM_011525474.3:c.361G>C	XP_011523776.1:p.Glu121Gln
XM_017025335.2:c.361G>C	XP_016880824.1:p.Glu121Gln
NM_001319945.2:c.587G>C	NP_001306874.1:p.Ter196Ser
NR_028581.2:n.955G>C
NR_028582.2:n.820G>C
NM_001384165.1:c.361G>C	NP_001371094.1:p.Glu121Gln
NM_001384166.1:c.361G>C	NP_001371095.1:p.Glu121Gln
NM_001384167.1:c.361G>C	NP_001371096.1:p.Glu121Gln
NM_001384168.1:c.361G>C	NP_001371097.1:p.Glu121Gln
NM_138387.4:c.706G>C MANE Select	NP_612396.1:p.Glu236Gln