Canonical Allele Identifier: CA280953

Gene: G6PC3

Linked Data

• ClinVar Variation Id: 1039
• ClinVar RCV Id: RCV000001094
• dbSNP Id: rs118203970
• gnomAD v4: 17-44071106-C-G
• MyVariant Identifiers: chr17:g.42148474C>G (hg19) ; chr17:g.44071106C>G (hg38)
• PubMed: PMID:19118303

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44071106C>G , CM000679.2:g.44071106C>G	GRCh38
NC_000017.10:g.42148474C>G , CM000679.1:g.42148474C>G	GRCh37
NC_000017.9:g.39504000C>G	NCBI36
NG_015818.1:g.5377C>G , LRG_182:g.5377C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000585361.6:c.141C>G	ENSP00000466983.1:p.Tyr47Ter
ENST00000588558.6:c.141C>G	ENSP00000467624.1:p.Tyr47Ter
ENST00000590253.3:c.141C>G	ENSP00000465111.2:p.Tyr47Ter
ENST00000593115.2:c.141C>G	ENSP00000466821.1:p.Tyr47Ter
ENST00000696383.1:c.-312+392C>G	ENSP00000512593.1:n.-312+392C>G
ENST00000696384.1:c.141C>G	ENSP00000512594.1:p.Tyr47Ter
ENST00000696385.1:c.141C>G	ENSP00000512595.1:p.Tyr47Ter
ENST00000696386.1:c.141C>G	ENSP00000512596.1:p.Tyr47Ter
ENST00000696387.1:c.141C>G	ENSP00000512597.1:p.Tyr47Ter
ENST00000696388.1:c.141C>G	ENSP00000512598.1:p.Tyr47Ter
ENST00000696389.1:c.141C>G	ENSP00000512599.1:p.Tyr47Ter
ENST00000696390.1:c.141C>G	ENSP00000512600.1:p.Tyr47Ter
ENST00000696391.1:c.141C>G	ENSP00000512601.1:p.Tyr47Ter
ENST00000696392.1:c.141C>G	ENSP00000512602.1:p.Tyr47Ter
ENST00000696393.1:c.141C>G	ENSP00000512603.1:p.Tyr47Ter
ENST00000696405.1:c.141C>G	ENSP00000512607.1:p.Tyr47Ter
ENST00000269097.9:c.141C>G MANE Select	ENSP00000269097.3:p.Tyr47Ter
ENST00000269097.8:c.141C>G	ENSP00000269097.3:p.Tyr47Ter
ENST00000585361.5:c.141C>G	ENSP00000466983.1:p.Tyr47Ter
ENST00000585962.1:n.194C>G
ENST00000588558.5:c.141C>G	ENSP00000467624.1:p.Tyr47Ter
ENST00000591696.1:c.141C>G	ENSP00000468677.1:p.Tyr47Ter
ENST00000593115.1:c.141C>G	ENSP00000466821.1:p.Tyr47Ter
NM_138387.3:c.141C>G , LRG_182t1:c.141C>G	NP_612396.1:p.Tyr47Ter
NR_028581.1:n.377C>G
NR_028582.1:n.377C>G
XM_006722179.2:c.141C>G	XP_006722242.1:p.Tyr47Ter
XM_011525473.1:c.-389C>G	XP_011523775.1:n.-389C>G
XM_011525474.1:c.-448C>G	XP_011523776.1:n.-448C>G
NM_001319945.1:c.141C>G	NP_001306874.1:p.Tyr47Ter
XM_011525474.3:c.-448C>G	XP_011523776.1:n.-448C>G
XM_017025335.2:c.-312+392C>G	XP_016880824.1:n.-312+392C>G
NM_001319945.2:c.141C>G	NP_001306874.1:p.Tyr47Ter
NR_028581.2:n.196C>G
NR_028582.2:n.196C>G
NM_001384165.1:c.-264C>G	NP_001371094.1:n.-264C>G
NM_001384166.1:c.-399C>G	NP_001371095.1:n.-399C>G
NM_001384167.1:c.-389C>G	NP_001371096.1:n.-389C>G
NM_001384168.1:c.-312+392C>G	NP_001371097.1:n.-312+392C>G
NM_138387.4:c.141C>G MANE Select	NP_612396.1:p.Tyr47Ter