Canonical Allele Identifier: CA500617094
Gene: G6PC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.42153093A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44075725A>C , CM000679.2:g.44075725A>C GRCh38
NC_000017.10:g.42153093A>C , CM000679.1:g.42153093A>C GRCh37
NC_000017.9:g.39508619A>C NCBI36
NG_015818.1:g.9996A>C , LRG_182:g.9996A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000585361.6:c.*560A>C ENSP00000466983.1:n.*560A>C
ENST00000588558.6:c.*698A>C ENSP00000467624.1:n.*698A>C
ENST00000590253.3:c.*16A>C ENSP00000465111.2:n.*16A>C
ENST00000593115.2:c.*744A>C ENSP00000466821.1:n.*744A>C
ENST00000696383.1:c.378A>C ENSP00000512593.1:p.Ile126=
ENST00000696384.1:c.*283A>C ENSP00000512594.1:n.*283A>C
ENST00000696385.1:c.*441A>C ENSP00000512595.1:n.*441A>C
ENST00000696386.1:c.*16A>C ENSP00000512596.1:n.*16A>C
ENST00000696387.1:c.*350A>C ENSP00000512597.1:n.*350A>C
ENST00000696388.1:c.*569A>C ENSP00000512598.1:n.*569A>C
ENST00000696389.1:c.*754A>C ENSP00000512599.1:n.*754A>C
ENST00000696390.1:c.513A>C ENSP00000512600.1:p.Ile171=
ENST00000696391.1:c.*579A>C ENSP00000512601.1:n.*579A>C
ENST00000696392.1:c.723A>C ENSP00000512602.1:p.Ile241=
ENST00000696393.1:c.723A>C ENSP00000512603.1:p.Ile241=
ENST00000696405.1:c.677+274A>C ENSP00000512607.1:n.677+274A>C
ENST00000269097.9:c.723A>C MANE Select ENSP00000269097.3:p.Ile241=
ENST00000269097.8:c.723A>C ENSP00000269097.3:p.Ile241=
ENST00000585361.5:c.*560A>C ENSP00000466983.1:n.*560A>C
ENST00000588558.5:c.*698A>C ENSP00000467624.1:n.*698A>C
ENST00000590253.2:c.225A>C
ENST00000590639.1:n.744A>C
ENST00000591696.1:c.615A>C ENSP00000468677.1:p.Ile205=
NM_138387.3:c.723A>C , LRG_182t1:c.723A>C NP_612396.1:p.Ile241=
NR_028581.1:n.1153A>C
NR_028582.1:n.1018A>C
XM_006722179.2:c.*16A>C XP_006722242.1:n.*16A>C
XM_011525473.1:c.378A>C XP_011523775.1:p.Ile126=
XM_011525474.1:c.378A>C XP_011523776.1:p.Ile126=
NM_001319945.1:c.*16A>C NP_001306874.1:n.*16A>C
XM_011525473.3:c.378A>C XP_011523775.1:p.Ile126=
XM_011525474.3:c.378A>C XP_011523776.1:p.Ile126=
XM_017025335.2:c.378A>C XP_016880824.1:p.Ile126=
NM_001319945.2:c.*16A>C NP_001306874.1:n.*16A>C
NR_028581.2:n.972A>C
NR_028582.2:n.837A>C
NM_001384165.1:c.378A>C NP_001371094.1:p.Ile126=
NM_001384166.1:c.378A>C NP_001371095.1:p.Ile126=
NM_001384167.1:c.378A>C NP_001371096.1:p.Ile126=
NM_001384168.1:c.378A>C NP_001371097.1:p.Ile126=
NM_138387.4:c.723A>C MANE Select NP_612396.1:p.Ile241=