Canonical Allele Identifier: CA8596129

Gene: G6PC3

Linked Data

• ClinVar Variation Id: 734136
• ClinVar RCV Id: RCV000909521
• dbSNP Id: rs377343204
• ExAC: 17:42153057 C / T
• gnomAD v2: 17-42153057-C-T
• gnomAD v3: 17-44075689-C-T
• gnomAD v4: 17-44075689-C-T
• MyVariant Identifiers: chr17:g.42153057C>T (hg19) ; chr17:g.44075689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075689C>T , CM000679.2:g.44075689C>T	GRCh38
NC_000017.10:g.42153057C>T , CM000679.1:g.42153057C>T	GRCh37
NC_000017.9:g.39508583C>T	NCBI36
NG_015818.1:g.9960C>T , LRG_182:g.9960C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*524C>T	ENSP00000466983.1:n.*524C>T
ENST00000588558.6:c.*662C>T	ENSP00000467624.1:n.*662C>T
ENST00000590253.3:c.568C>T	ENSP00000465111.2:p.Pro190Ser
ENST00000593115.2:c.*708C>T	ENSP00000466821.1:n.*708C>T
ENST00000696383.1:c.342C>T	ENSP00000512593.1:p.Ser114=
ENST00000696384.1:c.*247C>T	ENSP00000512594.1:n.*247C>T
ENST00000696385.1:c.*405C>T	ENSP00000512595.1:n.*405C>T
ENST00000696386.1:c.370C>T	ENSP00000512596.1:p.Pro124Ser
ENST00000696387.1:c.*314C>T	ENSP00000512597.1:n.*314C>T
ENST00000696388.1:c.*533C>T	ENSP00000512598.1:n.*533C>T
ENST00000696389.1:c.*718C>T	ENSP00000512599.1:n.*718C>T
ENST00000696390.1:c.477C>T	ENSP00000512600.1:p.Ser159=
ENST00000696391.1:c.*543C>T	ENSP00000512601.1:n.*543C>T
ENST00000696392.1:c.687C>T	ENSP00000512602.1:p.Ser229=
ENST00000696393.1:c.687C>T	ENSP00000512603.1:p.Ser229=
ENST00000696405.1:c.677+238C>T	ENSP00000512607.1:n.677+238C>T
ENST00000269097.9:c.687C>T MANE Select	ENSP00000269097.3:p.Ser229=
ENST00000269097.8:c.687C>T	ENSP00000269097.3:p.Ser229=
ENST00000585361.5:c.*524C>T	ENSP00000466983.1:n.*524C>T
ENST00000588558.5:c.*662C>T	ENSP00000467624.1:n.*662C>T
ENST00000590253.2:c.189C>T
ENST00000590639.1:n.708C>T
ENST00000591696.1:c.579C>T	ENSP00000468677.1:p.Ser193=
NM_138387.3:c.687C>T , LRG_182t1:c.687C>T	NP_612396.1:p.Ser229=
NR_028581.1:n.1117C>T
NR_028582.1:n.982C>T
XM_006722179.2:c.568C>T	XP_006722242.1:p.Pro190Ser
XM_011525473.1:c.342C>T	XP_011523775.1:p.Ser114=
XM_011525474.1:c.342C>T	XP_011523776.1:p.Ser114=
NM_001319945.1:c.568C>T	NP_001306874.1:p.Pro190Ser
XM_011525473.3:c.342C>T	XP_011523775.1:p.Ser114=
XM_011525474.3:c.342C>T	XP_011523776.1:p.Ser114=
XM_017025335.2:c.342C>T	XP_016880824.1:p.Ser114=
NM_001319945.2:c.568C>T	NP_001306874.1:p.Pro190Ser
NR_028581.2:n.936C>T
NR_028582.2:n.801C>T
NM_001384165.1:c.342C>T	NP_001371094.1:p.Ser114=
NM_001384166.1:c.342C>T	NP_001371095.1:p.Ser114=
NM_001384167.1:c.342C>T	NP_001371096.1:p.Ser114=
NM_001384168.1:c.342C>T	NP_001371097.1:p.Ser114=
NM_138387.4:c.687C>T MANE Select	NP_612396.1:p.Ser229=