Canonical Allele Identifier: CA399729118

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153062C>A (hg19) ; chr17:g.44075694C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075694C>A , CM000679.2:g.44075694C>A	GRCh38
NC_000017.10:g.42153062C>A , CM000679.1:g.42153062C>A	GRCh37
NC_000017.9:g.39508588C>A	NCBI36
NG_015818.1:g.9965C>A , LRG_182:g.9965C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*529C>A	ENSP00000466983.1:n.*529C>A
ENST00000588558.6:c.*667C>A	ENSP00000467624.1:n.*667C>A
ENST00000590253.3:c.573C>A	ENSP00000465111.2:p.Ser191Arg
ENST00000593115.2:c.*713C>A	ENSP00000466821.1:n.*713C>A
ENST00000696383.1:c.347C>A	ENSP00000512593.1:p.Ala116Asp
ENST00000696384.1:c.*252C>A	ENSP00000512594.1:n.*252C>A
ENST00000696385.1:c.*410C>A	ENSP00000512595.1:n.*410C>A
ENST00000696386.1:c.375C>A	ENSP00000512596.1:p.Ser125Arg
ENST00000696387.1:c.*319C>A	ENSP00000512597.1:n.*319C>A
ENST00000696388.1:c.*538C>A	ENSP00000512598.1:n.*538C>A
ENST00000696389.1:c.*723C>A	ENSP00000512599.1:n.*723C>A
ENST00000696390.1:c.482C>A	ENSP00000512600.1:p.Ala161Asp
ENST00000696391.1:c.*548C>A	ENSP00000512601.1:n.*548C>A
ENST00000696392.1:c.692C>A	ENSP00000512602.1:p.Ala231Asp
ENST00000696393.1:c.692C>A	ENSP00000512603.1:p.Ala231Asp
ENST00000696405.1:c.677+243C>A	ENSP00000512607.1:n.677+243C>A
ENST00000269097.9:c.692C>A MANE Select	ENSP00000269097.3:p.Ala231Asp
ENST00000269097.8:c.692C>A	ENSP00000269097.3:p.Ala231Asp
ENST00000585361.5:c.*529C>A	ENSP00000466983.1:n.*529C>A
ENST00000588558.5:c.*667C>A	ENSP00000467624.1:n.*667C>A
ENST00000590253.2:c.194C>A
ENST00000590639.1:n.713C>A
ENST00000591696.1:c.584C>A	ENSP00000468677.1:p.Ala195Asp
NM_138387.3:c.692C>A , LRG_182t1:c.692C>A	NP_612396.1:p.Ala231Asp
NR_028581.1:n.1122C>A
NR_028582.1:n.987C>A
XM_006722179.2:c.573C>A	XP_006722242.1:p.Ser191Arg
XM_011525473.1:c.347C>A	XP_011523775.1:p.Ala116Asp
XM_011525474.1:c.347C>A	XP_011523776.1:p.Ala116Asp
NM_001319945.1:c.573C>A	NP_001306874.1:p.Ser191Arg
XM_011525473.3:c.347C>A	XP_011523775.1:p.Ala116Asp
XM_011525474.3:c.347C>A	XP_011523776.1:p.Ala116Asp
XM_017025335.2:c.347C>A	XP_016880824.1:p.Ala116Asp
NM_001319945.2:c.573C>A	NP_001306874.1:p.Ser191Arg
NR_028581.2:n.941C>A
NR_028582.2:n.806C>A
NM_001384165.1:c.347C>A	NP_001371094.1:p.Ala116Asp
NM_001384166.1:c.347C>A	NP_001371095.1:p.Ala116Asp
NM_001384167.1:c.347C>A	NP_001371096.1:p.Ala116Asp
NM_001384168.1:c.347C>A	NP_001371097.1:p.Ala116Asp
NM_138387.4:c.692C>A MANE Select	NP_612396.1:p.Ala231Asp