Canonical Allele Identifier: CA500617229

Gene: G6PC3

Linked Data

• ClinVar Variation Id: 2980113
• ClinVar RCV Id: RCV003837287
• dbSNP Id: rs1207106446
• gnomAD v2: 17-42153162-C-T
• gnomAD v4: 17-44075794-C-T
• MyVariant Identifiers: chr17:g.42153162C>T (hg19) ; chr17:g.44075794C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075794C>T , CM000679.2:g.44075794C>T	GRCh38
NC_000017.10:g.42153162C>T , CM000679.1:g.42153162C>T	GRCh37
NC_000017.9:g.39508688C>T	NCBI36
NG_015818.1:g.10065C>T , LRG_182:g.10065C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*629C>T	ENSP00000466983.1:n.*629C>T
ENST00000588558.6:c.*767C>T	ENSP00000467624.1:n.*767C>T
ENST00000590253.3:c.*85C>T	ENSP00000465111.2:n.*85C>T
ENST00000593115.2:c.*813C>T	ENSP00000466821.1:n.*813C>T
ENST00000696383.1:c.447C>T	ENSP00000512593.1:p.Ala149=
ENST00000696384.1:c.*352C>T	ENSP00000512594.1:n.*352C>T
ENST00000696385.1:c.*510C>T	ENSP00000512595.1:n.*510C>T
ENST00000696386.1:c.*85C>T	ENSP00000512596.1:n.*85C>T
ENST00000696387.1:c.*419C>T	ENSP00000512597.1:n.*419C>T
ENST00000696388.1:c.*638C>T	ENSP00000512598.1:n.*638C>T
ENST00000696389.1:c.*823C>T	ENSP00000512599.1:n.*823C>T
ENST00000696390.1:c.582C>T	ENSP00000512600.1:p.Ala194=
ENST00000696391.1:c.*648C>T	ENSP00000512601.1:n.*648C>T
ENST00000696392.1:c.792C>T	ENSP00000512602.1:p.Ala264=
ENST00000696393.1:c.792C>T	ENSP00000512603.1:p.Ala264=
ENST00000696405.1:c.677+343C>T	ENSP00000512607.1:n.677+343C>T
ENST00000269097.9:c.792C>T MANE Select	ENSP00000269097.3:p.Ala264=
ENST00000269097.8:c.792C>T	ENSP00000269097.3:p.Ala264=
ENST00000585361.5:c.*629C>T	ENSP00000466983.1:n.*629C>T
ENST00000588558.5:c.*767C>T	ENSP00000467624.1:n.*767C>T
ENST00000590253.2:c.294C>T
ENST00000590639.1:n.813C>T
ENST00000591696.1:c.684C>T	ENSP00000468677.1:p.Ala228=
NM_138387.3:c.792C>T , LRG_182t1:c.792C>T	NP_612396.1:p.Ala264=
NR_028581.1:n.1222C>T
NR_028582.1:n.1087C>T
XM_011525473.1:c.447C>T	XP_011523775.1:p.Ala149=
XM_011525474.1:c.447C>T	XP_011523776.1:p.Ala149=
NM_001319945.1:c.*85C>T	NP_001306874.1:n.*85C>T
XM_011525473.3:c.447C>T	XP_011523775.1:p.Ala149=
XM_011525474.3:c.447C>T	XP_011523776.1:p.Ala149=
XM_017025335.2:c.447C>T	XP_016880824.1:p.Ala149=
NM_001319945.2:c.*85C>T	NP_001306874.1:n.*85C>T
NR_028581.2:n.1041C>T
NR_028582.2:n.906C>T
NM_001384165.1:c.447C>T	NP_001371094.1:p.Ala149=
NM_001384166.1:c.447C>T	NP_001371095.1:p.Ala149=
NM_001384167.1:c.447C>T	NP_001371096.1:p.Ala149=
NM_001384168.1:c.447C>T	NP_001371097.1:p.Ala149=
NM_138387.4:c.792C>T MANE Select	NP_612396.1:p.Ala264=