Canonical Allele Identifier: CA399729243

Gene: G6PC3

Linked Data

• gnomAD v4: 17-44075748-C-T
• MyVariant Identifiers: chr17:g.42153116C>T (hg19) ; chr17:g.44075748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075748C>T , CM000679.2:g.44075748C>T	GRCh38
NC_000017.10:g.42153116C>T , CM000679.1:g.42153116C>T	GRCh37
NC_000017.9:g.39508642C>T	NCBI36
NG_015818.1:g.10019C>T , LRG_182:g.10019C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*583C>T	ENSP00000466983.1:n.*583C>T
ENST00000588558.6:c.*721C>T	ENSP00000467624.1:n.*721C>T
ENST00000590253.3:c.*39C>T	ENSP00000465111.2:n.*39C>T
ENST00000593115.2:c.*767C>T	ENSP00000466821.1:n.*767C>T
ENST00000696383.1:c.401C>T	ENSP00000512593.1:p.Ala134Val
ENST00000696384.1:c.*306C>T	ENSP00000512594.1:n.*306C>T
ENST00000696385.1:c.*464C>T	ENSP00000512595.1:n.*464C>T
ENST00000696386.1:c.*39C>T	ENSP00000512596.1:n.*39C>T
ENST00000696387.1:c.*373C>T	ENSP00000512597.1:n.*373C>T
ENST00000696388.1:c.*592C>T	ENSP00000512598.1:n.*592C>T
ENST00000696389.1:c.*777C>T	ENSP00000512599.1:n.*777C>T
ENST00000696390.1:c.536C>T	ENSP00000512600.1:p.Ala179Val
ENST00000696391.1:c.*602C>T	ENSP00000512601.1:n.*602C>T
ENST00000696392.1:c.746C>T	ENSP00000512602.1:p.Ala249Val
ENST00000696393.1:c.746C>T	ENSP00000512603.1:p.Ala249Val
ENST00000696405.1:c.677+297C>T	ENSP00000512607.1:n.677+297C>T
ENST00000269097.9:c.746C>T MANE Select	ENSP00000269097.3:p.Ala249Val
ENST00000269097.8:c.746C>T	ENSP00000269097.3:p.Ala249Val
ENST00000585361.5:c.*583C>T	ENSP00000466983.1:n.*583C>T
ENST00000588558.5:c.*721C>T	ENSP00000467624.1:n.*721C>T
ENST00000590253.2:c.248C>T
ENST00000590639.1:n.767C>T
ENST00000591696.1:c.638C>T	ENSP00000468677.1:p.Ala213Val
NM_138387.3:c.746C>T , LRG_182t1:c.746C>T	NP_612396.1:p.Ala249Val
NR_028581.1:n.1176C>T
NR_028582.1:n.1041C>T
XM_011525473.1:c.401C>T	XP_011523775.1:p.Ala134Val
XM_011525474.1:c.401C>T	XP_011523776.1:p.Ala134Val
NM_001319945.1:c.*39C>T	NP_001306874.1:n.*39C>T
XM_011525473.3:c.401C>T	XP_011523775.1:p.Ala134Val
XM_011525474.3:c.401C>T	XP_011523776.1:p.Ala134Val
XM_017025335.2:c.401C>T	XP_016880824.1:p.Ala134Val
NM_001319945.2:c.*39C>T	NP_001306874.1:n.*39C>T
NR_028581.2:n.995C>T
NR_028582.2:n.860C>T
NM_001384165.1:c.401C>T	NP_001371094.1:p.Ala134Val
NM_001384166.1:c.401C>T	NP_001371095.1:p.Ala134Val
NM_001384167.1:c.401C>T	NP_001371096.1:p.Ala134Val
NM_001384168.1:c.401C>T	NP_001371097.1:p.Ala134Val
NM_138387.4:c.746C>T MANE Select	NP_612396.1:p.Ala249Val