Canonical Allele Identifier: CA399729339

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153167A>C (hg19) ; chr17:g.44075799A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075799A>C , CM000679.2:g.44075799A>C	GRCh38
NC_000017.10:g.42153167A>C , CM000679.1:g.42153167A>C	GRCh37
NC_000017.9:g.39508693A>C	NCBI36
NG_015818.1:g.10070A>C , LRG_182:g.10070A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*634A>C	ENSP00000466983.1:n.*634A>C
ENST00000588558.6:c.*772A>C	ENSP00000467624.1:n.*772A>C
ENST00000590253.3:c.*90A>C	ENSP00000465111.2:n.*90A>C
ENST00000593115.2:c.*818A>C	ENSP00000466821.1:n.*818A>C
ENST00000696383.1:c.452A>C	ENSP00000512593.1:p.His151Pro
ENST00000696384.1:c.*357A>C	ENSP00000512594.1:n.*357A>C
ENST00000696385.1:c.*515A>C	ENSP00000512595.1:n.*515A>C
ENST00000696386.1:c.*90A>C	ENSP00000512596.1:n.*90A>C
ENST00000696387.1:c.*424A>C	ENSP00000512597.1:n.*424A>C
ENST00000696388.1:c.*643A>C	ENSP00000512598.1:n.*643A>C
ENST00000696389.1:c.*828A>C	ENSP00000512599.1:n.*828A>C
ENST00000696390.1:c.587A>C	ENSP00000512600.1:p.His196Pro
ENST00000696391.1:c.*653A>C	ENSP00000512601.1:n.*653A>C
ENST00000696392.1:c.797A>C	ENSP00000512602.1:p.His266Pro
ENST00000696393.1:c.797A>C	ENSP00000512603.1:p.His266Pro
ENST00000696405.1:c.677+348A>C	ENSP00000512607.1:n.677+348A>C
ENST00000269097.9:c.797A>C MANE Select	ENSP00000269097.3:p.His266Pro
ENST00000269097.8:c.797A>C	ENSP00000269097.3:p.His266Pro
ENST00000585361.5:c.*634A>C	ENSP00000466983.1:n.*634A>C
ENST00000588558.5:c.*772A>C	ENSP00000467624.1:n.*772A>C
ENST00000590253.2:c.299A>C
ENST00000590639.1:n.818A>C
ENST00000591696.1:c.689A>C	ENSP00000468677.1:p.His230Pro
NM_138387.3:c.797A>C , LRG_182t1:c.797A>C	NP_612396.1:p.His266Pro
NR_028581.1:n.1227A>C
NR_028582.1:n.1092A>C
XM_011525473.1:c.452A>C	XP_011523775.1:p.His151Pro
XM_011525474.1:c.452A>C	XP_011523776.1:p.His151Pro
NM_001319945.1:c.*90A>C	NP_001306874.1:n.*90A>C
XM_011525473.3:c.452A>C	XP_011523775.1:p.His151Pro
XM_011525474.3:c.452A>C	XP_011523776.1:p.His151Pro
XM_017025335.2:c.452A>C	XP_016880824.1:p.His151Pro
NM_001319945.2:c.*90A>C	NP_001306874.1:n.*90A>C
NR_028581.2:n.1046A>C
NR_028582.2:n.911A>C
NM_001384165.1:c.452A>C	NP_001371094.1:p.His151Pro
NM_001384166.1:c.452A>C	NP_001371095.1:p.His151Pro
NM_001384167.1:c.452A>C	NP_001371096.1:p.His151Pro
NM_001384168.1:c.452A>C	NP_001371097.1:p.His151Pro
NM_138387.4:c.797A>C MANE Select	NP_612396.1:p.His266Pro