Canonical Allele Identifier: CA500617028

Gene: G6PC3

Linked Data

• gnomAD v4: 17-44075692-A-C
• MyVariant Identifiers: chr17:g.42153060A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075692A>C , CM000679.2:g.44075692A>C	GRCh38
NC_000017.10:g.42153060A>C , CM000679.1:g.42153060A>C	GRCh37
NC_000017.9:g.39508586A>C	NCBI36
NG_015818.1:g.9963A>C , LRG_182:g.9963A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*527A>C	ENSP00000466983.1:n.*527A>C
ENST00000588558.6:c.*665A>C	ENSP00000467624.1:n.*665A>C
ENST00000590253.3:c.571A>C	ENSP00000465111.2:p.Ser191Arg
ENST00000593115.2:c.*711A>C	ENSP00000466821.1:n.*711A>C
ENST00000696383.1:c.345A>C	ENSP00000512593.1:p.Leu115=
ENST00000696384.1:c.*250A>C	ENSP00000512594.1:n.*250A>C
ENST00000696385.1:c.*408A>C	ENSP00000512595.1:n.*408A>C
ENST00000696386.1:c.373A>C	ENSP00000512596.1:p.Ser125Arg
ENST00000696387.1:c.*317A>C	ENSP00000512597.1:n.*317A>C
ENST00000696388.1:c.*536A>C	ENSP00000512598.1:n.*536A>C
ENST00000696389.1:c.*721A>C	ENSP00000512599.1:n.*721A>C
ENST00000696390.1:c.480A>C	ENSP00000512600.1:p.Leu160=
ENST00000696391.1:c.*546A>C	ENSP00000512601.1:n.*546A>C
ENST00000696392.1:c.690A>C	ENSP00000512602.1:p.Leu230=
ENST00000696393.1:c.690A>C	ENSP00000512603.1:p.Leu230=
ENST00000696405.1:c.677+241A>C	ENSP00000512607.1:n.677+241A>C
ENST00000269097.9:c.690A>C MANE Select	ENSP00000269097.3:p.Leu230=
ENST00000269097.8:c.690A>C	ENSP00000269097.3:p.Leu230=
ENST00000585361.5:c.*527A>C	ENSP00000466983.1:n.*527A>C
ENST00000588558.5:c.*665A>C	ENSP00000467624.1:n.*665A>C
ENST00000590253.2:c.192A>C
ENST00000590639.1:n.711A>C
ENST00000591696.1:c.582A>C	ENSP00000468677.1:p.Leu194=
NM_138387.3:c.690A>C , LRG_182t1:c.690A>C	NP_612396.1:p.Leu230=
NR_028581.1:n.1120A>C
NR_028582.1:n.985A>C
XM_006722179.2:c.571A>C	XP_006722242.1:p.Ser191Arg
XM_011525473.1:c.345A>C	XP_011523775.1:p.Leu115=
XM_011525474.1:c.345A>C	XP_011523776.1:p.Leu115=
NM_001319945.1:c.571A>C	NP_001306874.1:p.Ser191Arg
XM_011525473.3:c.345A>C	XP_011523775.1:p.Leu115=
XM_011525474.3:c.345A>C	XP_011523776.1:p.Leu115=
XM_017025335.2:c.345A>C	XP_016880824.1:p.Leu115=
NM_001319945.2:c.571A>C	NP_001306874.1:p.Ser191Arg
NR_028581.2:n.939A>C
NR_028582.2:n.804A>C
NM_001384165.1:c.345A>C	NP_001371094.1:p.Leu115=
NM_001384166.1:c.345A>C	NP_001371095.1:p.Leu115=
NM_001384167.1:c.345A>C	NP_001371096.1:p.Leu115=
NM_001384168.1:c.345A>C	NP_001371097.1:p.Leu115=
NM_138387.4:c.690A>C MANE Select	NP_612396.1:p.Leu230=