Canonical Allele Identifier: CA399729288

Gene: G6PC3

Linked Data

• gnomAD v4: 17-44075771-G-T
• MyVariant Identifiers: chr17:g.42153139G>T (hg19) ; chr17:g.44075771G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075771G>T , CM000679.2:g.44075771G>T	GRCh38
NC_000017.10:g.42153139G>T , CM000679.1:g.42153139G>T	GRCh37
NC_000017.9:g.39508665G>T	NCBI36
NG_015818.1:g.10042G>T , LRG_182:g.10042G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*606G>T	ENSP00000466983.1:n.*606G>T
ENST00000588558.6:c.*744G>T	ENSP00000467624.1:n.*744G>T
ENST00000590253.3:c.*62G>T	ENSP00000465111.2:n.*62G>T
ENST00000593115.2:c.*790G>T	ENSP00000466821.1:n.*790G>T
ENST00000696383.1:c.424G>T	ENSP00000512593.1:p.Ala142Ser
ENST00000696384.1:c.*329G>T	ENSP00000512594.1:n.*329G>T
ENST00000696385.1:c.*487G>T	ENSP00000512595.1:n.*487G>T
ENST00000696386.1:c.*62G>T	ENSP00000512596.1:n.*62G>T
ENST00000696387.1:c.*396G>T	ENSP00000512597.1:n.*396G>T
ENST00000696388.1:c.*615G>T	ENSP00000512598.1:n.*615G>T
ENST00000696389.1:c.*800G>T	ENSP00000512599.1:n.*800G>T
ENST00000696390.1:c.559G>T	ENSP00000512600.1:p.Ala187Ser
ENST00000696391.1:c.*625G>T	ENSP00000512601.1:n.*625G>T
ENST00000696392.1:c.769G>T	ENSP00000512602.1:p.Ala257Ser
ENST00000696393.1:c.769G>T	ENSP00000512603.1:p.Ala257Ser
ENST00000696405.1:c.677+320G>T	ENSP00000512607.1:n.677+320G>T
ENST00000269097.9:c.769G>T MANE Select	ENSP00000269097.3:p.Ala257Ser
ENST00000269097.8:c.769G>T	ENSP00000269097.3:p.Ala257Ser
ENST00000585361.5:c.*606G>T	ENSP00000466983.1:n.*606G>T
ENST00000588558.5:c.*744G>T	ENSP00000467624.1:n.*744G>T
ENST00000590253.2:c.271G>T
ENST00000590639.1:n.790G>T
ENST00000591696.1:c.661G>T	ENSP00000468677.1:p.Ala221Ser
NM_138387.3:c.769G>T , LRG_182t1:c.769G>T	NP_612396.1:p.Ala257Ser
NR_028581.1:n.1199G>T
NR_028582.1:n.1064G>T
XM_011525473.1:c.424G>T	XP_011523775.1:p.Ala142Ser
XM_011525474.1:c.424G>T	XP_011523776.1:p.Ala142Ser
NM_001319945.1:c.*62G>T	NP_001306874.1:n.*62G>T
XM_011525473.3:c.424G>T	XP_011523775.1:p.Ala142Ser
XM_011525474.3:c.424G>T	XP_011523776.1:p.Ala142Ser
XM_017025335.2:c.424G>T	XP_016880824.1:p.Ala142Ser
NM_001319945.2:c.*62G>T	NP_001306874.1:n.*62G>T
NR_028581.2:n.1018G>T
NR_028582.2:n.883G>T
NM_001384165.1:c.424G>T	NP_001371094.1:p.Ala142Ser
NM_001384166.1:c.424G>T	NP_001371095.1:p.Ala142Ser
NM_001384167.1:c.424G>T	NP_001371096.1:p.Ala142Ser
NM_001384168.1:c.424G>T	NP_001371097.1:p.Ala142Ser
NM_138387.4:c.769G>T MANE Select	NP_612396.1:p.Ala257Ser