Canonical Allele Identifier: CA500243266

Gene: G6PC3

Linked Data

• dbSNP Id: rs1195884379
• gnomAD v2: 17-42152682-T-A
• gnomAD v4: 17-44075314-T-A
• MyVariant Identifiers: chr17:g.42152682T>A (hg19) ; chr17:g.44075314T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*377T>A	ENSP00000466983.1:n.*377T>A
ENST00000588558.6:c.*515T>A	ENSP00000467624.1:n.*515T>A
ENST00000590253.3:c.421T>A	ENSP00000465111.2:p.Cys141Ser
ENST00000593115.2:c.*561T>A	ENSP00000466821.1:n.*561T>A
ENST00000696383.1:c.195T>A	ENSP00000512593.1:p.Ala65=
ENST00000696384.1:c.*100T>A	ENSP00000512594.1:n.*100T>A
ENST00000696385.1:c.*258T>A	ENSP00000512595.1:n.*258T>A
ENST00000696386.1:c.223T>A	ENSP00000512596.1:p.Cys75Ser
ENST00000696387.1:c.*167T>A	ENSP00000512597.1:n.*167T>A
ENST00000696388.1:c.*386T>A	ENSP00000512598.1:n.*386T>A
ENST00000696389.1:c.*571T>A	ENSP00000512599.1:n.*571T>A
ENST00000696390.1:c.330T>A	ENSP00000512600.1:p.Ala110=
ENST00000696391.1:c.*396T>A	ENSP00000512601.1:n.*396T>A
ENST00000696392.1:c.540T>A	ENSP00000512602.1:p.Ala180=
ENST00000696393.1:c.540T>A	ENSP00000512603.1:p.Ala180=
ENST00000696405.1:c.540T>A	ENSP00000512607.1:p.Ala180=
ENST00000269097.9:c.540T>A MANE Select	ENSP00000269097.3:p.Ala180=
ENST00000269097.8:c.540T>A	ENSP00000269097.3:p.Ala180=
ENST00000585361.5:c.*377T>A	ENSP00000466983.1:n.*377T>A
ENST00000588558.5:c.*515T>A	ENSP00000467624.1:n.*515T>A
ENST00000590253.2:c.42T>A
ENST00000590639.1:n.561T>A
ENST00000591696.1:c.432T>A	ENSP00000468677.1:p.Ala144=
NM_138387.3:c.540T>A , LRG_182t1:c.540T>A	NP_612396.1:p.Ala180=
NR_028581.1:n.970T>A
NR_028582.1:n.835T>A
XM_006722179.2:c.421T>A	XP_006722242.1:p.Cys141Ser
XM_011525473.1:c.195T>A	XP_011523775.1:p.Ala65=
XM_011525474.1:c.195T>A	XP_011523776.1:p.Ala65=
NM_001319945.1:c.421T>A	NP_001306874.1:p.Cys141Ser
XM_011525473.3:c.195T>A	XP_011523775.1:p.Ala65=
XM_011525474.3:c.195T>A	XP_011523776.1:p.Ala65=
XM_017025335.2:c.195T>A	XP_016880824.1:p.Ala65=
NM_001319945.2:c.421T>A	NP_001306874.1:p.Cys141Ser
NR_028581.2:n.789T>A
NR_028582.2:n.654T>A
NM_001384165.1:c.195T>A	NP_001371094.1:p.Ala65=
NM_001384166.1:c.195T>A	NP_001371095.1:p.Ala65=
NM_001384167.1:c.195T>A	NP_001371096.1:p.Ala65=
NM_001384168.1:c.195T>A	NP_001371097.1:p.Ala65=
NM_138387.4:c.540T>A MANE Select	NP_612396.1:p.Ala180=