Canonical Allele Identifier: CA399729115

Gene: G6PC3

Linked Data

• gnomAD v4: 17-44075693-G-A
• MyVariant Identifiers: chr17:g.42153061G>A (hg19) ; chr17:g.44075693G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075693G>A , CM000679.2:g.44075693G>A	GRCh38
NC_000017.10:g.42153061G>A , CM000679.1:g.42153061G>A	GRCh37
NC_000017.9:g.39508587G>A	NCBI36
NG_015818.1:g.9964G>A , LRG_182:g.9964G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.*528G>A	ENSP00000466983.1:n.*528G>A
ENST00000588558.6:c.*666G>A	ENSP00000467624.1:n.*666G>A
ENST00000590253.3:c.572G>A	ENSP00000465111.2:p.Ser191Asn
ENST00000593115.2:c.*712G>A	ENSP00000466821.1:n.*712G>A
ENST00000696383.1:c.346G>A	ENSP00000512593.1:p.Ala116Thr
ENST00000696384.1:c.*251G>A	ENSP00000512594.1:n.*251G>A
ENST00000696385.1:c.*409G>A	ENSP00000512595.1:n.*409G>A
ENST00000696386.1:c.374G>A	ENSP00000512596.1:p.Ser125Asn
ENST00000696387.1:c.*318G>A	ENSP00000512597.1:n.*318G>A
ENST00000696388.1:c.*537G>A	ENSP00000512598.1:n.*537G>A
ENST00000696389.1:c.*722G>A	ENSP00000512599.1:n.*722G>A
ENST00000696390.1:c.481G>A	ENSP00000512600.1:p.Ala161Thr
ENST00000696391.1:c.*547G>A	ENSP00000512601.1:n.*547G>A
ENST00000696392.1:c.691G>A	ENSP00000512602.1:p.Ala231Thr
ENST00000696393.1:c.691G>A	ENSP00000512603.1:p.Ala231Thr
ENST00000696405.1:c.677+242G>A	ENSP00000512607.1:n.677+242G>A
ENST00000269097.9:c.691G>A MANE Select	ENSP00000269097.3:p.Ala231Thr
ENST00000269097.8:c.691G>A	ENSP00000269097.3:p.Ala231Thr
ENST00000585361.5:c.*528G>A	ENSP00000466983.1:n.*528G>A
ENST00000588558.5:c.*666G>A	ENSP00000467624.1:n.*666G>A
ENST00000590253.2:c.193G>A
ENST00000590639.1:n.712G>A
ENST00000591696.1:c.583G>A	ENSP00000468677.1:p.Ala195Thr
NM_138387.3:c.691G>A , LRG_182t1:c.691G>A	NP_612396.1:p.Ala231Thr
NR_028581.1:n.1121G>A
NR_028582.1:n.986G>A
XM_006722179.2:c.572G>A	XP_006722242.1:p.Ser191Asn
XM_011525473.1:c.346G>A	XP_011523775.1:p.Ala116Thr
XM_011525474.1:c.346G>A	XP_011523776.1:p.Ala116Thr
NM_001319945.1:c.572G>A	NP_001306874.1:p.Ser191Asn
XM_011525473.3:c.346G>A	XP_011523775.1:p.Ala116Thr
XM_011525474.3:c.346G>A	XP_011523776.1:p.Ala116Thr
XM_017025335.2:c.346G>A	XP_016880824.1:p.Ala116Thr
NM_001319945.2:c.572G>A	NP_001306874.1:p.Ser191Asn
NR_028581.2:n.940G>A
NR_028582.2:n.805G>A
NM_001384165.1:c.346G>A	NP_001371094.1:p.Ala116Thr
NM_001384166.1:c.346G>A	NP_001371095.1:p.Ala116Thr
NM_001384167.1:c.346G>A	NP_001371096.1:p.Ala116Thr
NM_001384168.1:c.346G>A	NP_001371097.1:p.Ala116Thr
NM_138387.4:c.691G>A MANE Select	NP_612396.1:p.Ala231Thr