Canonical Allele Identifier: CA399729204

Gene: G6PC3

Linked Data

• gnomAD v4: 17-44075732-G-A
• MyVariant Identifiers: chr17:g.42153100G>A (hg19) ; chr17:g.44075732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075732G>A , CM000679.2:g.44075732G>A	GRCh38
NC_000017.10:g.42153100G>A , CM000679.1:g.42153100G>A	GRCh37
NC_000017.9:g.39508626G>A	NCBI36
NG_015818.1:g.10003G>A , LRG_182:g.10003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*567G>A	ENSP00000466983.1:n.*567G>A
ENST00000588558.6:c.*705G>A	ENSP00000467624.1:n.*705G>A
ENST00000590253.3:c.*23G>A	ENSP00000465111.2:n.*23G>A
ENST00000593115.2:c.*751G>A	ENSP00000466821.1:n.*751G>A
ENST00000696383.1:c.385G>A	ENSP00000512593.1:p.Asp129Asn
ENST00000696384.1:c.*290G>A	ENSP00000512594.1:n.*290G>A
ENST00000696385.1:c.*448G>A	ENSP00000512595.1:n.*448G>A
ENST00000696386.1:c.*23G>A	ENSP00000512596.1:n.*23G>A
ENST00000696387.1:c.*357G>A	ENSP00000512597.1:n.*357G>A
ENST00000696388.1:c.*576G>A	ENSP00000512598.1:n.*576G>A
ENST00000696389.1:c.*761G>A	ENSP00000512599.1:n.*761G>A
ENST00000696390.1:c.520G>A	ENSP00000512600.1:p.Asp174Asn
ENST00000696391.1:c.*586G>A	ENSP00000512601.1:n.*586G>A
ENST00000696392.1:c.730G>A	ENSP00000512602.1:p.Asp244Asn
ENST00000696393.1:c.730G>A	ENSP00000512603.1:p.Asp244Asn
ENST00000696405.1:c.677+281G>A	ENSP00000512607.1:n.677+281G>A
ENST00000269097.9:c.730G>A MANE Select	ENSP00000269097.3:p.Asp244Asn
ENST00000269097.8:c.730G>A	ENSP00000269097.3:p.Asp244Asn
ENST00000585361.5:c.*567G>A	ENSP00000466983.1:n.*567G>A
ENST00000588558.5:c.*705G>A	ENSP00000467624.1:n.*705G>A
ENST00000590253.2:c.232G>A
ENST00000590639.1:n.751G>A
ENST00000591696.1:c.622G>A	ENSP00000468677.1:p.Asp208Asn
NM_138387.3:c.730G>A , LRG_182t1:c.730G>A	NP_612396.1:p.Asp244Asn
NR_028581.1:n.1160G>A
NR_028582.1:n.1025G>A
XM_011525473.1:c.385G>A	XP_011523775.1:p.Asp129Asn
XM_011525474.1:c.385G>A	XP_011523776.1:p.Asp129Asn
NM_001319945.1:c.*23G>A	NP_001306874.1:n.*23G>A
XM_011525473.3:c.385G>A	XP_011523775.1:p.Asp129Asn
XM_011525474.3:c.385G>A	XP_011523776.1:p.Asp129Asn
XM_017025335.2:c.385G>A	XP_016880824.1:p.Asp129Asn
NM_001319945.2:c.*23G>A	NP_001306874.1:n.*23G>A
NR_028581.2:n.979G>A
NR_028582.2:n.844G>A
NM_001384165.1:c.385G>A	NP_001371094.1:p.Asp129Asn
NM_001384166.1:c.385G>A	NP_001371095.1:p.Asp129Asn
NM_001384167.1:c.385G>A	NP_001371096.1:p.Asp129Asn
NM_001384168.1:c.385G>A	NP_001371097.1:p.Asp129Asn
NM_138387.4:c.730G>A MANE Select	NP_612396.1:p.Asp244Asn