Canonical Allele Identifier: CA500243287

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42152695C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075327C>T , CM000679.2:g.44075327C>T	GRCh38
NC_000017.10:g.42152695C>T , CM000679.1:g.42152695C>T	GRCh37
NC_000017.9:g.39508221C>T	NCBI36
NG_015818.1:g.9598C>T , LRG_182:g.9598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*390C>T	ENSP00000466983.1:n.*390C>T
ENST00000588558.6:c.*528C>T	ENSP00000467624.1:n.*528C>T
ENST00000590253.3:c.434C>T	ENSP00000465111.2:p.Ala145Val
ENST00000593115.2:c.*574C>T	ENSP00000466821.1:n.*574C>T
ENST00000696383.1:c.208C>T	ENSP00000512593.1:p.Leu70=
ENST00000696384.1:c.*113C>T	ENSP00000512594.1:n.*113C>T
ENST00000696385.1:c.*271C>T	ENSP00000512595.1:n.*271C>T
ENST00000696386.1:c.236C>T	ENSP00000512596.1:p.Ala79Val
ENST00000696387.1:c.*180C>T	ENSP00000512597.1:n.*180C>T
ENST00000696388.1:c.*399C>T	ENSP00000512598.1:n.*399C>T
ENST00000696389.1:c.*584C>T	ENSP00000512599.1:n.*584C>T
ENST00000696390.1:c.343C>T	ENSP00000512600.1:p.Leu115=
ENST00000696391.1:c.*409C>T	ENSP00000512601.1:n.*409C>T
ENST00000696392.1:c.553C>T	ENSP00000512602.1:p.Leu185=
ENST00000696393.1:c.553C>T	ENSP00000512603.1:p.Leu185=
ENST00000696405.1:c.553C>T	ENSP00000512607.1:p.Leu185=
ENST00000269097.9:c.553C>T MANE Select	ENSP00000269097.3:p.Leu185=
ENST00000269097.8:c.553C>T	ENSP00000269097.3:p.Leu185=
ENST00000585361.5:c.*390C>T	ENSP00000466983.1:n.*390C>T
ENST00000588558.5:c.*528C>T	ENSP00000467624.1:n.*528C>T
ENST00000590253.2:c.55C>T
ENST00000590639.1:n.574C>T
ENST00000591696.1:c.445C>T	ENSP00000468677.1:p.Leu149=
NM_138387.3:c.553C>T , LRG_182t1:c.553C>T	NP_612396.1:p.Leu185=
NR_028581.1:n.983C>T
NR_028582.1:n.848C>T
XM_006722179.2:c.434C>T	XP_006722242.1:p.Ala145Val
XM_011525473.1:c.208C>T	XP_011523775.1:p.Leu70=
XM_011525474.1:c.208C>T	XP_011523776.1:p.Leu70=
NM_001319945.1:c.434C>T	NP_001306874.1:p.Ala145Val
XM_011525473.3:c.208C>T	XP_011523775.1:p.Leu70=
XM_011525474.3:c.208C>T	XP_011523776.1:p.Leu70=
XM_017025335.2:c.208C>T	XP_016880824.1:p.Leu70=
NM_001319945.2:c.434C>T	NP_001306874.1:p.Ala145Val
NR_028581.2:n.802C>T
NR_028582.2:n.667C>T
NM_001384165.1:c.208C>T	NP_001371094.1:p.Leu70=
NM_001384166.1:c.208C>T	NP_001371095.1:p.Leu70=
NM_001384167.1:c.208C>T	NP_001371096.1:p.Leu70=
NM_001384168.1:c.208C>T	NP_001371097.1:p.Leu70=
NM_138387.4:c.553C>T MANE Select	NP_612396.1:p.Leu185=