Canonical Allele Identifier: CA500243274

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42152685C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075317C>A , CM000679.2:g.44075317C>A	GRCh38
NC_000017.10:g.42152685C>A , CM000679.1:g.42152685C>A	GRCh37
NC_000017.9:g.39508211C>A	NCBI36
NG_015818.1:g.9588C>A , LRG_182:g.9588C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*380C>A	ENSP00000466983.1:n.*380C>A
ENST00000588558.6:c.*518C>A	ENSP00000467624.1:n.*518C>A
ENST00000590253.3:c.424C>A	ENSP00000465111.2:p.Pro142Thr
ENST00000593115.2:c.*564C>A	ENSP00000466821.1:n.*564C>A
ENST00000696383.1:c.198C>A	ENSP00000512593.1:p.Val66=
ENST00000696384.1:c.*103C>A	ENSP00000512594.1:n.*103C>A
ENST00000696385.1:c.*261C>A	ENSP00000512595.1:n.*261C>A
ENST00000696386.1:c.226C>A	ENSP00000512596.1:p.Pro76Thr
ENST00000696387.1:c.*170C>A	ENSP00000512597.1:n.*170C>A
ENST00000696388.1:c.*389C>A	ENSP00000512598.1:n.*389C>A
ENST00000696389.1:c.*574C>A	ENSP00000512599.1:n.*574C>A
ENST00000696390.1:c.333C>A	ENSP00000512600.1:p.Val111=
ENST00000696391.1:c.*399C>A	ENSP00000512601.1:n.*399C>A
ENST00000696392.1:c.543C>A	ENSP00000512602.1:p.Val181=
ENST00000696393.1:c.543C>A	ENSP00000512603.1:p.Val181=
ENST00000696405.1:c.543C>A	ENSP00000512607.1:p.Val181=
ENST00000269097.9:c.543C>A MANE Select	ENSP00000269097.3:p.Val181=
ENST00000269097.8:c.543C>A	ENSP00000269097.3:p.Val181=
ENST00000585361.5:c.*380C>A	ENSP00000466983.1:n.*380C>A
ENST00000588558.5:c.*518C>A	ENSP00000467624.1:n.*518C>A
ENST00000590253.2:c.45C>A
ENST00000590639.1:n.564C>A
ENST00000591696.1:c.435C>A	ENSP00000468677.1:p.Val145=
NM_138387.3:c.543C>A , LRG_182t1:c.543C>A	NP_612396.1:p.Val181=
NR_028581.1:n.973C>A
NR_028582.1:n.838C>A
XM_006722179.2:c.424C>A	XP_006722242.1:p.Pro142Thr
XM_011525473.1:c.198C>A	XP_011523775.1:p.Val66=
XM_011525474.1:c.198C>A	XP_011523776.1:p.Val66=
NM_001319945.1:c.424C>A	NP_001306874.1:p.Pro142Thr
XM_011525473.3:c.198C>A	XP_011523775.1:p.Val66=
XM_011525474.3:c.198C>A	XP_011523776.1:p.Val66=
XM_017025335.2:c.198C>A	XP_016880824.1:p.Val66=
NM_001319945.2:c.424C>A	NP_001306874.1:p.Pro142Thr
NR_028581.2:n.792C>A
NR_028582.2:n.657C>A
NM_001384165.1:c.198C>A	NP_001371094.1:p.Val66=
NM_001384166.1:c.198C>A	NP_001371095.1:p.Val66=
NM_001384167.1:c.198C>A	NP_001371096.1:p.Val66=
NM_001384168.1:c.198C>A	NP_001371097.1:p.Val66=
NM_138387.4:c.543C>A MANE Select	NP_612396.1:p.Val181=