Canonical Allele Identifier: CA399729318

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153157A>T (hg19) ; chr17:g.44075789A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075789A>T , CM000679.2:g.44075789A>T	GRCh38
NC_000017.10:g.42153157A>T , CM000679.1:g.42153157A>T	GRCh37
NC_000017.9:g.39508683A>T	NCBI36
NG_015818.1:g.10060A>T , LRG_182:g.10060A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*624A>T	ENSP00000466983.1:n.*624A>T
ENST00000588558.6:c.*762A>T	ENSP00000467624.1:n.*762A>T
ENST00000590253.3:c.*80A>T	ENSP00000465111.2:n.*80A>T
ENST00000593115.2:c.*808A>T	ENSP00000466821.1:n.*808A>T
ENST00000696383.1:c.442A>T	ENSP00000512593.1:p.Ile148Phe
ENST00000696384.1:c.*347A>T	ENSP00000512594.1:n.*347A>T
ENST00000696385.1:c.*505A>T	ENSP00000512595.1:n.*505A>T
ENST00000696386.1:c.*80A>T	ENSP00000512596.1:n.*80A>T
ENST00000696387.1:c.*414A>T	ENSP00000512597.1:n.*414A>T
ENST00000696388.1:c.*633A>T	ENSP00000512598.1:n.*633A>T
ENST00000696389.1:c.*818A>T	ENSP00000512599.1:n.*818A>T
ENST00000696390.1:c.577A>T	ENSP00000512600.1:p.Ile193Phe
ENST00000696391.1:c.*643A>T	ENSP00000512601.1:n.*643A>T
ENST00000696392.1:c.787A>T	ENSP00000512602.1:p.Ile263Phe
ENST00000696393.1:c.787A>T	ENSP00000512603.1:p.Ile263Phe
ENST00000696405.1:c.677+338A>T	ENSP00000512607.1:n.677+338A>T
ENST00000269097.9:c.787A>T MANE Select	ENSP00000269097.3:p.Ile263Phe
ENST00000269097.8:c.787A>T	ENSP00000269097.3:p.Ile263Phe
ENST00000585361.5:c.*624A>T	ENSP00000466983.1:n.*624A>T
ENST00000588558.5:c.*762A>T	ENSP00000467624.1:n.*762A>T
ENST00000590253.2:c.289A>T
ENST00000590639.1:n.808A>T
ENST00000591696.1:c.679A>T	ENSP00000468677.1:p.Ile227Phe
NM_138387.3:c.787A>T , LRG_182t1:c.787A>T	NP_612396.1:p.Ile263Phe
NR_028581.1:n.1217A>T
NR_028582.1:n.1082A>T
XM_011525473.1:c.442A>T	XP_011523775.1:p.Ile148Phe
XM_011525474.1:c.442A>T	XP_011523776.1:p.Ile148Phe
NM_001319945.1:c.*80A>T	NP_001306874.1:n.*80A>T
XM_011525473.3:c.442A>T	XP_011523775.1:p.Ile148Phe
XM_011525474.3:c.442A>T	XP_011523776.1:p.Ile148Phe
XM_017025335.2:c.442A>T	XP_016880824.1:p.Ile148Phe
NM_001319945.2:c.*80A>T	NP_001306874.1:n.*80A>T
NR_028581.2:n.1036A>T
NR_028582.2:n.901A>T
NM_001384165.1:c.442A>T	NP_001371094.1:p.Ile148Phe
NM_001384166.1:c.442A>T	NP_001371095.1:p.Ile148Phe
NM_001384167.1:c.442A>T	NP_001371096.1:p.Ile148Phe
NM_001384168.1:c.442A>T	NP_001371097.1:p.Ile148Phe
NM_138387.4:c.787A>T MANE Select	NP_612396.1:p.Ile263Phe