Canonical Allele Identifier: CA399729202

Gene: G6PC3

Linked Data

• gnomAD v4: 17-44075730-T-C
• MyVariant Identifiers: chr17:g.42153098T>C (hg19) ; chr17:g.44075730T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075730T>C , CM000679.2:g.44075730T>C	GRCh38
NC_000017.10:g.42153098T>C , CM000679.1:g.42153098T>C	GRCh37
NC_000017.9:g.39508624T>C	NCBI36
NG_015818.1:g.10001T>C , LRG_182:g.10001T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*565T>C	ENSP00000466983.1:n.*565T>C
ENST00000588558.6:c.*703T>C	ENSP00000467624.1:n.*703T>C
ENST00000590253.3:c.*21T>C	ENSP00000465111.2:n.*21T>C
ENST00000593115.2:c.*749T>C	ENSP00000466821.1:n.*749T>C
ENST00000696383.1:c.383T>C	ENSP00000512593.1:p.Val128Ala
ENST00000696384.1:c.*288T>C	ENSP00000512594.1:n.*288T>C
ENST00000696385.1:c.*446T>C	ENSP00000512595.1:n.*446T>C
ENST00000696386.1:c.*21T>C	ENSP00000512596.1:n.*21T>C
ENST00000696387.1:c.*355T>C	ENSP00000512597.1:n.*355T>C
ENST00000696388.1:c.*574T>C	ENSP00000512598.1:n.*574T>C
ENST00000696389.1:c.*759T>C	ENSP00000512599.1:n.*759T>C
ENST00000696390.1:c.518T>C	ENSP00000512600.1:p.Val173Ala
ENST00000696391.1:c.*584T>C	ENSP00000512601.1:n.*584T>C
ENST00000696392.1:c.728T>C	ENSP00000512602.1:p.Val243Ala
ENST00000696393.1:c.728T>C	ENSP00000512603.1:p.Val243Ala
ENST00000696405.1:c.677+279T>C	ENSP00000512607.1:n.677+279T>C
ENST00000269097.9:c.728T>C MANE Select	ENSP00000269097.3:p.Val243Ala
ENST00000269097.8:c.728T>C	ENSP00000269097.3:p.Val243Ala
ENST00000585361.5:c.*565T>C	ENSP00000466983.1:n.*565T>C
ENST00000588558.5:c.*703T>C	ENSP00000467624.1:n.*703T>C
ENST00000590253.2:c.230T>C
ENST00000590639.1:n.749T>C
ENST00000591696.1:c.620T>C	ENSP00000468677.1:p.Val207Ala
NM_138387.3:c.728T>C , LRG_182t1:c.728T>C	NP_612396.1:p.Val243Ala
NR_028581.1:n.1158T>C
NR_028582.1:n.1023T>C
XM_011525473.1:c.383T>C	XP_011523775.1:p.Val128Ala
XM_011525474.1:c.383T>C	XP_011523776.1:p.Val128Ala
NM_001319945.1:c.*21T>C	NP_001306874.1:n.*21T>C
XM_011525473.3:c.383T>C	XP_011523775.1:p.Val128Ala
XM_011525474.3:c.383T>C	XP_011523776.1:p.Val128Ala
XM_017025335.2:c.383T>C	XP_016880824.1:p.Val128Ala
NM_001319945.2:c.*21T>C	NP_001306874.1:n.*21T>C
NR_028581.2:n.977T>C
NR_028582.2:n.842T>C
NM_001384165.1:c.383T>C	NP_001371094.1:p.Val128Ala
NM_001384166.1:c.383T>C	NP_001371095.1:p.Val128Ala
NM_001384167.1:c.383T>C	NP_001371096.1:p.Val128Ala
NM_001384168.1:c.383T>C	NP_001371097.1:p.Val128Ala
NM_138387.4:c.728T>C MANE Select	NP_612396.1:p.Val243Ala