Canonical Allele Identifier: CA500243267

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42152682T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075314T>C , CM000679.2:g.44075314T>C	GRCh38
NC_000017.10:g.42152682T>C , CM000679.1:g.42152682T>C	GRCh37
NC_000017.9:g.39508208T>C	NCBI36
NG_015818.1:g.9585T>C , LRG_182:g.9585T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*377T>C	ENSP00000466983.1:n.*377T>C
ENST00000588558.6:c.*515T>C	ENSP00000467624.1:n.*515T>C
ENST00000590253.3:c.421T>C	ENSP00000465111.2:p.Cys141Arg
ENST00000593115.2:c.*561T>C	ENSP00000466821.1:n.*561T>C
ENST00000696383.1:c.195T>C	ENSP00000512593.1:p.Ala65=
ENST00000696384.1:c.*100T>C	ENSP00000512594.1:n.*100T>C
ENST00000696385.1:c.*258T>C	ENSP00000512595.1:n.*258T>C
ENST00000696386.1:c.223T>C	ENSP00000512596.1:p.Cys75Arg
ENST00000696387.1:c.*167T>C	ENSP00000512597.1:n.*167T>C
ENST00000696388.1:c.*386T>C	ENSP00000512598.1:n.*386T>C
ENST00000696389.1:c.*571T>C	ENSP00000512599.1:n.*571T>C
ENST00000696390.1:c.330T>C	ENSP00000512600.1:p.Ala110=
ENST00000696391.1:c.*396T>C	ENSP00000512601.1:n.*396T>C
ENST00000696392.1:c.540T>C	ENSP00000512602.1:p.Ala180=
ENST00000696393.1:c.540T>C	ENSP00000512603.1:p.Ala180=
ENST00000696405.1:c.540T>C	ENSP00000512607.1:p.Ala180=
ENST00000269097.9:c.540T>C MANE Select	ENSP00000269097.3:p.Ala180=
ENST00000269097.8:c.540T>C	ENSP00000269097.3:p.Ala180=
ENST00000585361.5:c.*377T>C	ENSP00000466983.1:n.*377T>C
ENST00000588558.5:c.*515T>C	ENSP00000467624.1:n.*515T>C
ENST00000590253.2:c.42T>C
ENST00000590639.1:n.561T>C
ENST00000591696.1:c.432T>C	ENSP00000468677.1:p.Ala144=
NM_138387.3:c.540T>C , LRG_182t1:c.540T>C	NP_612396.1:p.Ala180=
NR_028581.1:n.970T>C
NR_028582.1:n.835T>C
XM_006722179.2:c.421T>C	XP_006722242.1:p.Cys141Arg
XM_011525473.1:c.195T>C	XP_011523775.1:p.Ala65=
XM_011525474.1:c.195T>C	XP_011523776.1:p.Ala65=
NM_001319945.1:c.421T>C	NP_001306874.1:p.Cys141Arg
XM_011525473.3:c.195T>C	XP_011523775.1:p.Ala65=
XM_011525474.3:c.195T>C	XP_011523776.1:p.Ala65=
XM_017025335.2:c.195T>C	XP_016880824.1:p.Ala65=
NM_001319945.2:c.421T>C	NP_001306874.1:p.Cys141Arg
NR_028581.2:n.789T>C
NR_028582.2:n.654T>C
NM_001384165.1:c.195T>C	NP_001371094.1:p.Ala65=
NM_001384166.1:c.195T>C	NP_001371095.1:p.Ala65=
NM_001384167.1:c.195T>C	NP_001371096.1:p.Ala65=
NM_001384168.1:c.195T>C	NP_001371097.1:p.Ala65=
NM_138387.4:c.540T>C MANE Select	NP_612396.1:p.Ala180=