Canonical Allele Identifier: CA500617068

Gene: G6PC3

Linked Data

• gnomAD v4: 17-44075713-G-A
• MyVariant Identifiers: chr17:g.42153081G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075713G>A , CM000679.2:g.44075713G>A	GRCh38
NC_000017.10:g.42153081G>A , CM000679.1:g.42153081G>A	GRCh37
NC_000017.9:g.39508607G>A	NCBI36
NG_015818.1:g.9984G>A , LRG_182:g.9984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*548G>A	ENSP00000466983.1:n.*548G>A
ENST00000588558.6:c.*686G>A	ENSP00000467624.1:n.*686G>A
ENST00000590253.3:c.*4G>A	ENSP00000465111.2:n.*4G>A
ENST00000593115.2:c.*732G>A	ENSP00000466821.1:n.*732G>A
ENST00000696383.1:c.366G>A	ENSP00000512593.1:p.Arg122=
ENST00000696384.1:c.*271G>A	ENSP00000512594.1:n.*271G>A
ENST00000696385.1:c.*429G>A	ENSP00000512595.1:n.*429G>A
ENST00000696386.1:c.*4G>A	ENSP00000512596.1:n.*4G>A
ENST00000696387.1:c.*338G>A	ENSP00000512597.1:n.*338G>A
ENST00000696388.1:c.*557G>A	ENSP00000512598.1:n.*557G>A
ENST00000696389.1:c.*742G>A	ENSP00000512599.1:n.*742G>A
ENST00000696390.1:c.501G>A	ENSP00000512600.1:p.Arg167=
ENST00000696391.1:c.*567G>A	ENSP00000512601.1:n.*567G>A
ENST00000696392.1:c.711G>A	ENSP00000512602.1:p.Arg237=
ENST00000696393.1:c.711G>A	ENSP00000512603.1:p.Arg237=
ENST00000696405.1:c.677+262G>A	ENSP00000512607.1:n.677+262G>A
ENST00000269097.9:c.711G>A MANE Select	ENSP00000269097.3:p.Arg237=
ENST00000269097.8:c.711G>A	ENSP00000269097.3:p.Arg237=
ENST00000585361.5:c.*548G>A	ENSP00000466983.1:n.*548G>A
ENST00000588558.5:c.*686G>A	ENSP00000467624.1:n.*686G>A
ENST00000590253.2:c.213G>A
ENST00000590639.1:n.732G>A
ENST00000591696.1:c.603G>A	ENSP00000468677.1:p.Arg201=
NM_138387.3:c.711G>A , LRG_182t1:c.711G>A	NP_612396.1:p.Arg237=
NR_028581.1:n.1141G>A
NR_028582.1:n.1006G>A
XM_006722179.2:c.*4G>A	XP_006722242.1:n.*4G>A
XM_011525473.1:c.366G>A	XP_011523775.1:p.Arg122=
XM_011525474.1:c.366G>A	XP_011523776.1:p.Arg122=
NM_001319945.1:c.*4G>A	NP_001306874.1:n.*4G>A
XM_011525473.3:c.366G>A	XP_011523775.1:p.Arg122=
XM_011525474.3:c.366G>A	XP_011523776.1:p.Arg122=
XM_017025335.2:c.366G>A	XP_016880824.1:p.Arg122=
NM_001319945.2:c.*4G>A	NP_001306874.1:n.*4G>A
NR_028581.2:n.960G>A
NR_028582.2:n.825G>A
NM_001384165.1:c.366G>A	NP_001371094.1:p.Arg122=
NM_001384166.1:c.366G>A	NP_001371095.1:p.Arg122=
NM_001384167.1:c.366G>A	NP_001371096.1:p.Arg122=
NM_001384168.1:c.366G>A	NP_001371097.1:p.Arg122=
NM_138387.4:c.711G>A MANE Select	NP_612396.1:p.Arg237=