Canonical Allele Identifier: CA399729132

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153068A>C (hg19) ; chr17:g.44075700A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075700A>C , CM000679.2:g.44075700A>C	GRCh38
NC_000017.10:g.42153068A>C , CM000679.1:g.42153068A>C	GRCh37
NC_000017.9:g.39508594A>C	NCBI36
NG_015818.1:g.9971A>C , LRG_182:g.9971A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*535A>C	ENSP00000466983.1:n.*535A>C
ENST00000588558.6:c.*673A>C	ENSP00000467624.1:n.*673A>C
ENST00000590253.3:c.579A>C	ENSP00000465111.2:p.Gln193His
ENST00000593115.2:c.*719A>C	ENSP00000466821.1:n.*719A>C
ENST00000696383.1:c.353A>C	ENSP00000512593.1:p.Lys118Thr
ENST00000696384.1:c.*258A>C	ENSP00000512594.1:n.*258A>C
ENST00000696385.1:c.*416A>C	ENSP00000512595.1:n.*416A>C
ENST00000696386.1:c.381A>C	ENSP00000512596.1:p.Gln127His
ENST00000696387.1:c.*325A>C	ENSP00000512597.1:n.*325A>C
ENST00000696388.1:c.*544A>C	ENSP00000512598.1:n.*544A>C
ENST00000696389.1:c.*729A>C	ENSP00000512599.1:n.*729A>C
ENST00000696390.1:c.488A>C	ENSP00000512600.1:p.Lys163Thr
ENST00000696391.1:c.*554A>C	ENSP00000512601.1:n.*554A>C
ENST00000696392.1:c.698A>C	ENSP00000512602.1:p.Lys233Thr
ENST00000696393.1:c.698A>C	ENSP00000512603.1:p.Lys233Thr
ENST00000696405.1:c.677+249A>C	ENSP00000512607.1:n.677+249A>C
ENST00000269097.9:c.698A>C MANE Select	ENSP00000269097.3:p.Lys233Thr
ENST00000269097.8:c.698A>C	ENSP00000269097.3:p.Lys233Thr
ENST00000585361.5:c.*535A>C	ENSP00000466983.1:n.*535A>C
ENST00000588558.5:c.*673A>C	ENSP00000467624.1:n.*673A>C
ENST00000590253.2:c.200A>C
ENST00000590639.1:n.719A>C
ENST00000591696.1:c.590A>C	ENSP00000468677.1:p.Lys197Thr
NM_138387.3:c.698A>C , LRG_182t1:c.698A>C	NP_612396.1:p.Lys233Thr
NR_028581.1:n.1128A>C
NR_028582.1:n.993A>C
XM_006722179.2:c.579A>C	XP_006722242.1:p.Gln193His
XM_011525473.1:c.353A>C	XP_011523775.1:p.Lys118Thr
XM_011525474.1:c.353A>C	XP_011523776.1:p.Lys118Thr
NM_001319945.1:c.579A>C	NP_001306874.1:p.Gln193His
XM_011525473.3:c.353A>C	XP_011523775.1:p.Lys118Thr
XM_011525474.3:c.353A>C	XP_011523776.1:p.Lys118Thr
XM_017025335.2:c.353A>C	XP_016880824.1:p.Lys118Thr
NM_001319945.2:c.579A>C	NP_001306874.1:p.Gln193His
NR_028581.2:n.947A>C
NR_028582.2:n.812A>C
NM_001384165.1:c.353A>C	NP_001371094.1:p.Lys118Thr
NM_001384166.1:c.353A>C	NP_001371095.1:p.Lys118Thr
NM_001384167.1:c.353A>C	NP_001371096.1:p.Lys118Thr
NM_001384168.1:c.353A>C	NP_001371097.1:p.Lys118Thr
NM_138387.4:c.698A>C MANE Select	NP_612396.1:p.Lys233Thr