Canonical Allele Identifier: CA500616953

Gene: G6PC3

Linked Data

• dbSNP Id: rs1393402010
• gnomAD v2: 17-42152790-C-G
• gnomAD v4: 17-44075422-C-G
• MyVariant Identifiers: chr17:g.42152790C>G (hg19) ; chr17:g.44075422C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075422C>G , CM000679.2:g.44075422C>G	GRCh38
NC_000017.10:g.42152790C>G , CM000679.1:g.42152790C>G	GRCh37
NC_000017.9:g.39508316C>G	NCBI36
NG_015818.1:g.9693C>G , LRG_182:g.9693C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*485C>G	ENSP00000466983.1:n.*485C>G
ENST00000588558.6:c.*623C>G	ENSP00000467624.1:n.*623C>G
ENST00000590253.3:c.529C>G	ENSP00000465111.2:p.Pro177Ala
ENST00000593115.2:c.*669C>G	ENSP00000466821.1:n.*669C>G
ENST00000696383.1:c.303C>G	ENSP00000512593.1:p.Thr101=
ENST00000696384.1:c.*208C>G	ENSP00000512594.1:n.*208C>G
ENST00000696385.1:c.*366C>G	ENSP00000512595.1:n.*366C>G
ENST00000696386.1:c.331C>G	ENSP00000512596.1:p.Pro111Ala
ENST00000696387.1:c.*275C>G	ENSP00000512597.1:n.*275C>G
ENST00000696388.1:c.*494C>G	ENSP00000512598.1:n.*494C>G
ENST00000696389.1:c.*679C>G	ENSP00000512599.1:n.*679C>G
ENST00000696390.1:c.438C>G	ENSP00000512600.1:p.Thr146=
ENST00000696391.1:c.*504C>G	ENSP00000512601.1:n.*504C>G
ENST00000696392.1:c.648C>G	ENSP00000512602.1:p.Thr216=
ENST00000696393.1:c.648C>G	ENSP00000512603.1:p.Thr216=
ENST00000696405.1:c.648C>G	ENSP00000512607.1:p.Thr216=
ENST00000269097.9:c.648C>G MANE Select	ENSP00000269097.3:p.Thr216=
ENST00000269097.8:c.648C>G	ENSP00000269097.3:p.Thr216=
ENST00000585361.5:c.*485C>G	ENSP00000466983.1:n.*485C>G
ENST00000588558.5:c.*623C>G	ENSP00000467624.1:n.*623C>G
ENST00000590253.2:c.150C>G
ENST00000590639.1:n.669C>G
ENST00000591696.1:c.540C>G	ENSP00000468677.1:p.Thr180=
NM_138387.3:c.648C>G , LRG_182t1:c.648C>G	NP_612396.1:p.Thr216=
NR_028581.1:n.1078C>G
NR_028582.1:n.943C>G
XM_006722179.2:c.529C>G	XP_006722242.1:p.Pro177Ala
XM_011525473.1:c.303C>G	XP_011523775.1:p.Thr101=
XM_011525474.1:c.303C>G	XP_011523776.1:p.Thr101=
NM_001319945.1:c.529C>G	NP_001306874.1:p.Pro177Ala
XM_011525473.3:c.303C>G	XP_011523775.1:p.Thr101=
XM_011525474.3:c.303C>G	XP_011523776.1:p.Thr101=
XM_017025335.2:c.303C>G	XP_016880824.1:p.Thr101=
NM_001319945.2:c.529C>G	NP_001306874.1:p.Pro177Ala
NR_028581.2:n.897C>G
NR_028582.2:n.762C>G
NM_001384165.1:c.303C>G	NP_001371094.1:p.Thr101=
NM_001384166.1:c.303C>G	NP_001371095.1:p.Thr101=
NM_001384167.1:c.303C>G	NP_001371096.1:p.Thr101=
NM_001384168.1:c.303C>G	NP_001371097.1:p.Thr101=
NM_138387.4:c.648C>G MANE Select	NP_612396.1:p.Thr216=