Canonical Allele Identifier: CA399729326

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153161C>A (hg19) ; chr17:g.44075793C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075793C>A , CM000679.2:g.44075793C>A	GRCh38
NC_000017.10:g.42153161C>A , CM000679.1:g.42153161C>A	GRCh37
NC_000017.9:g.39508687C>A	NCBI36
NG_015818.1:g.10064C>A , LRG_182:g.10064C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*628C>A	ENSP00000466983.1:n.*628C>A
ENST00000588558.6:c.*766C>A	ENSP00000467624.1:n.*766C>A
ENST00000590253.3:c.*84C>A	ENSP00000465111.2:n.*84C>A
ENST00000593115.2:c.*812C>A	ENSP00000466821.1:n.*812C>A
ENST00000696383.1:c.446C>A	ENSP00000512593.1:p.Ala149Asp
ENST00000696384.1:c.*351C>A	ENSP00000512594.1:n.*351C>A
ENST00000696385.1:c.*509C>A	ENSP00000512595.1:n.*509C>A
ENST00000696386.1:c.*84C>A	ENSP00000512596.1:n.*84C>A
ENST00000696387.1:c.*418C>A	ENSP00000512597.1:n.*418C>A
ENST00000696388.1:c.*637C>A	ENSP00000512598.1:n.*637C>A
ENST00000696389.1:c.*822C>A	ENSP00000512599.1:n.*822C>A
ENST00000696390.1:c.581C>A	ENSP00000512600.1:p.Ala194Asp
ENST00000696391.1:c.*647C>A	ENSP00000512601.1:n.*647C>A
ENST00000696392.1:c.791C>A	ENSP00000512602.1:p.Ala264Asp
ENST00000696393.1:c.791C>A	ENSP00000512603.1:p.Ala264Asp
ENST00000696405.1:c.677+342C>A	ENSP00000512607.1:n.677+342C>A
ENST00000269097.9:c.791C>A MANE Select	ENSP00000269097.3:p.Ala264Asp
ENST00000269097.8:c.791C>A	ENSP00000269097.3:p.Ala264Asp
ENST00000585361.5:c.*628C>A	ENSP00000466983.1:n.*628C>A
ENST00000588558.5:c.*766C>A	ENSP00000467624.1:n.*766C>A
ENST00000590253.2:c.293C>A
ENST00000590639.1:n.812C>A
ENST00000591696.1:c.683C>A	ENSP00000468677.1:p.Ala228Asp
NM_138387.3:c.791C>A , LRG_182t1:c.791C>A	NP_612396.1:p.Ala264Asp
NR_028581.1:n.1221C>A
NR_028582.1:n.1086C>A
XM_011525473.1:c.446C>A	XP_011523775.1:p.Ala149Asp
XM_011525474.1:c.446C>A	XP_011523776.1:p.Ala149Asp
NM_001319945.1:c.*84C>A	NP_001306874.1:n.*84C>A
XM_011525473.3:c.446C>A	XP_011523775.1:p.Ala149Asp
XM_011525474.3:c.446C>A	XP_011523776.1:p.Ala149Asp
XM_017025335.2:c.446C>A	XP_016880824.1:p.Ala149Asp
NM_001319945.2:c.*84C>A	NP_001306874.1:n.*84C>A
NR_028581.2:n.1040C>A
NR_028582.2:n.905C>A
NM_001384165.1:c.446C>A	NP_001371094.1:p.Ala149Asp
NM_001384166.1:c.446C>A	NP_001371095.1:p.Ala149Asp
NM_001384167.1:c.446C>A	NP_001371096.1:p.Ala149Asp
NM_001384168.1:c.446C>A	NP_001371097.1:p.Ala149Asp
NM_138387.4:c.791C>A MANE Select	NP_612396.1:p.Ala264Asp