Canonical Allele Identifier: CA399727405

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42152699T>A (hg19) ; chr17:g.44075331T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075331T>A , CM000679.2:g.44075331T>A	GRCh38
NC_000017.10:g.42152699T>A , CM000679.1:g.42152699T>A	GRCh37
NC_000017.9:g.39508225T>A	NCBI36
NG_015818.1:g.9602T>A , LRG_182:g.9602T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*394T>A	ENSP00000466983.1:n.*394T>A
ENST00000588558.6:c.*532T>A	ENSP00000467624.1:n.*532T>A
ENST00000590253.3:c.438T>A	ENSP00000465111.2:p.Asp146Glu
ENST00000593115.2:c.*578T>A	ENSP00000466821.1:n.*578T>A
ENST00000696383.1:c.212T>A	ENSP00000512593.1:p.Met71Lys
ENST00000696384.1:c.*117T>A	ENSP00000512594.1:n.*117T>A
ENST00000696385.1:c.*275T>A	ENSP00000512595.1:n.*275T>A
ENST00000696386.1:c.240T>A	ENSP00000512596.1:p.Asp80Glu
ENST00000696387.1:c.*184T>A	ENSP00000512597.1:n.*184T>A
ENST00000696388.1:c.*403T>A	ENSP00000512598.1:n.*403T>A
ENST00000696389.1:c.*588T>A	ENSP00000512599.1:n.*588T>A
ENST00000696390.1:c.347T>A	ENSP00000512600.1:p.Met116Lys
ENST00000696391.1:c.*413T>A	ENSP00000512601.1:n.*413T>A
ENST00000696392.1:c.557T>A	ENSP00000512602.1:p.Met186Lys
ENST00000696393.1:c.557T>A	ENSP00000512603.1:p.Met186Lys
ENST00000696405.1:c.557T>A	ENSP00000512607.1:p.Met186Lys
ENST00000269097.9:c.557T>A MANE Select	ENSP00000269097.3:p.Met186Lys
ENST00000269097.8:c.557T>A	ENSP00000269097.3:p.Met186Lys
ENST00000585361.5:c.*394T>A	ENSP00000466983.1:n.*394T>A
ENST00000588558.5:c.*532T>A	ENSP00000467624.1:n.*532T>A
ENST00000590253.2:c.59T>A
ENST00000590639.1:n.578T>A
ENST00000591696.1:c.449T>A	ENSP00000468677.1:p.Met150Lys
NM_138387.3:c.557T>A , LRG_182t1:c.557T>A	NP_612396.1:p.Met186Lys
NR_028581.1:n.987T>A
NR_028582.1:n.852T>A
XM_006722179.2:c.438T>A	XP_006722242.1:p.Asp146Glu
XM_011525473.1:c.212T>A	XP_011523775.1:p.Met71Lys
XM_011525474.1:c.212T>A	XP_011523776.1:p.Met71Lys
NM_001319945.1:c.438T>A	NP_001306874.1:p.Asp146Glu
XM_011525473.3:c.212T>A	XP_011523775.1:p.Met71Lys
XM_011525474.3:c.212T>A	XP_011523776.1:p.Met71Lys
XM_017025335.2:c.212T>A	XP_016880824.1:p.Met71Lys
NM_001319945.2:c.438T>A	NP_001306874.1:p.Asp146Glu
NR_028581.2:n.806T>A
NR_028582.2:n.671T>A
NM_001384165.1:c.212T>A	NP_001371094.1:p.Met71Lys
NM_001384166.1:c.212T>A	NP_001371095.1:p.Met71Lys
NM_001384167.1:c.212T>A	NP_001371096.1:p.Met71Lys
NM_001384168.1:c.212T>A	NP_001371097.1:p.Met71Lys
NM_138387.4:c.557T>A MANE Select	NP_612396.1:p.Met186Lys