Canonical Allele Identifier: CA399729179

Gene: G6PC3

Linked Data

• dbSNP Id: rs1207084659
• gnomAD v2: 17-42153089-G-T
• MyVariant Identifiers: chr17:g.42153089G>T (hg19) ; chr17:g.44075721G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075721G>T , CM000679.2:g.44075721G>T	GRCh38
NC_000017.10:g.42153089G>T , CM000679.1:g.42153089G>T	GRCh37
NC_000017.9:g.39508615G>T	NCBI36
NG_015818.1:g.9992G>T , LRG_182:g.9992G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*556G>T	ENSP00000466983.1:n.*556G>T
ENST00000588558.6:c.*694G>T	ENSP00000467624.1:n.*694G>T
ENST00000590253.3:c.*12G>T	ENSP00000465111.2:n.*12G>T
ENST00000593115.2:c.*740G>T	ENSP00000466821.1:n.*740G>T
ENST00000696383.1:c.374G>T	ENSP00000512593.1:p.Trp125Leu
ENST00000696384.1:c.*279G>T	ENSP00000512594.1:n.*279G>T
ENST00000696385.1:c.*437G>T	ENSP00000512595.1:n.*437G>T
ENST00000696386.1:c.*12G>T	ENSP00000512596.1:n.*12G>T
ENST00000696387.1:c.*346G>T	ENSP00000512597.1:n.*346G>T
ENST00000696388.1:c.*565G>T	ENSP00000512598.1:n.*565G>T
ENST00000696389.1:c.*750G>T	ENSP00000512599.1:n.*750G>T
ENST00000696390.1:c.509G>T	ENSP00000512600.1:p.Trp170Leu
ENST00000696391.1:c.*575G>T	ENSP00000512601.1:n.*575G>T
ENST00000696392.1:c.719G>T	ENSP00000512602.1:p.Trp240Leu
ENST00000696393.1:c.719G>T	ENSP00000512603.1:p.Trp240Leu
ENST00000696405.1:c.677+270G>T	ENSP00000512607.1:n.677+270G>T
ENST00000269097.9:c.719G>T MANE Select	ENSP00000269097.3:p.Trp240Leu
ENST00000269097.8:c.719G>T	ENSP00000269097.3:p.Trp240Leu
ENST00000585361.5:c.*556G>T	ENSP00000466983.1:n.*556G>T
ENST00000588558.5:c.*694G>T	ENSP00000467624.1:n.*694G>T
ENST00000590253.2:c.221G>T
ENST00000590639.1:n.740G>T
ENST00000591696.1:c.611G>T	ENSP00000468677.1:p.Trp204Leu
NM_138387.3:c.719G>T , LRG_182t1:c.719G>T	NP_612396.1:p.Trp240Leu
NR_028581.1:n.1149G>T
NR_028582.1:n.1014G>T
XM_006722179.2:c.*12G>T	XP_006722242.1:n.*12G>T
XM_011525473.1:c.374G>T	XP_011523775.1:p.Trp125Leu
XM_011525474.1:c.374G>T	XP_011523776.1:p.Trp125Leu
NM_001319945.1:c.*12G>T	NP_001306874.1:n.*12G>T
XM_011525473.3:c.374G>T	XP_011523775.1:p.Trp125Leu
XM_011525474.3:c.374G>T	XP_011523776.1:p.Trp125Leu
XM_017025335.2:c.374G>T	XP_016880824.1:p.Trp125Leu
NM_001319945.2:c.*12G>T	NP_001306874.1:n.*12G>T
NR_028581.2:n.968G>T
NR_028582.2:n.833G>T
NM_001384165.1:c.374G>T	NP_001371094.1:p.Trp125Leu
NM_001384166.1:c.374G>T	NP_001371095.1:p.Trp125Leu
NM_001384167.1:c.374G>T	NP_001371096.1:p.Trp125Leu
NM_001384168.1:c.374G>T	NP_001371097.1:p.Trp125Leu
NM_138387.4:c.719G>T MANE Select	NP_612396.1:p.Trp240Leu