Canonical Allele Identifier: CA399727288

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42152680G>T (hg19) ; chr17:g.44075312G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075312G>T , CM000679.2:g.44075312G>T	GRCh38
NC_000017.10:g.42152680G>T , CM000679.1:g.42152680G>T	GRCh37
NC_000017.9:g.39508206G>T	NCBI36
NG_015818.1:g.9583G>T , LRG_182:g.9583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*375G>T	ENSP00000466983.1:n.*375G>T
ENST00000588558.6:c.*513G>T	ENSP00000467624.1:n.*513G>T
ENST00000590253.3:c.419G>T	ENSP00000465111.2:p.Arg140Leu
ENST00000593115.2:c.*559G>T	ENSP00000466821.1:n.*559G>T
ENST00000696383.1:c.193G>T	ENSP00000512593.1:p.Ala65Ser
ENST00000696384.1:c.*98G>T	ENSP00000512594.1:n.*98G>T
ENST00000696385.1:c.*256G>T	ENSP00000512595.1:n.*256G>T
ENST00000696386.1:c.221G>T	ENSP00000512596.1:p.Arg74Leu
ENST00000696387.1:c.*165G>T	ENSP00000512597.1:n.*165G>T
ENST00000696388.1:c.*384G>T	ENSP00000512598.1:n.*384G>T
ENST00000696389.1:c.*569G>T	ENSP00000512599.1:n.*569G>T
ENST00000696390.1:c.328G>T	ENSP00000512600.1:p.Ala110Ser
ENST00000696391.1:c.*394G>T	ENSP00000512601.1:n.*394G>T
ENST00000696392.1:c.538G>T	ENSP00000512602.1:p.Ala180Ser
ENST00000696393.1:c.538G>T	ENSP00000512603.1:p.Ala180Ser
ENST00000696405.1:c.538G>T	ENSP00000512607.1:p.Ala180Ser
ENST00000269097.9:c.538G>T MANE Select	ENSP00000269097.3:p.Ala180Ser
ENST00000269097.8:c.538G>T	ENSP00000269097.3:p.Ala180Ser
ENST00000585361.5:c.*375G>T	ENSP00000466983.1:n.*375G>T
ENST00000588558.5:c.*513G>T	ENSP00000467624.1:n.*513G>T
ENST00000590253.2:c.40G>T
ENST00000590639.1:n.559G>T
ENST00000591696.1:c.430G>T	ENSP00000468677.1:p.Ala144Ser
NM_138387.3:c.538G>T , LRG_182t1:c.538G>T	NP_612396.1:p.Ala180Ser
NR_028581.1:n.968G>T
NR_028582.1:n.833G>T
XM_006722179.2:c.419G>T	XP_006722242.1:p.Arg140Leu
XM_011525473.1:c.193G>T	XP_011523775.1:p.Ala65Ser
XM_011525474.1:c.193G>T	XP_011523776.1:p.Ala65Ser
NM_001319945.1:c.419G>T	NP_001306874.1:p.Arg140Leu
XM_011525473.3:c.193G>T	XP_011523775.1:p.Ala65Ser
XM_011525474.3:c.193G>T	XP_011523776.1:p.Ala65Ser
XM_017025335.2:c.193G>T	XP_016880824.1:p.Ala65Ser
NM_001319945.2:c.419G>T	NP_001306874.1:p.Arg140Leu
NR_028581.2:n.787G>T
NR_028582.2:n.652G>T
NM_001384165.1:c.193G>T	NP_001371094.1:p.Ala65Ser
NM_001384166.1:c.193G>T	NP_001371095.1:p.Ala65Ser
NM_001384167.1:c.193G>T	NP_001371096.1:p.Ala65Ser
NM_001384168.1:c.193G>T	NP_001371097.1:p.Ala65Ser
NM_138387.4:c.538G>T MANE Select	NP_612396.1:p.Ala180Ser