Canonical Allele Identifier: CA399729193

Gene: G6PC3

Linked Data

• dbSNP Id: rs1186430987
• gnomAD v2: 17-42153094-C-T
• MyVariant Identifiers: chr17:g.42153094C>T (hg19) ; chr17:g.44075726C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075726C>T , CM000679.2:g.44075726C>T	GRCh38
NC_000017.10:g.42153094C>T , CM000679.1:g.42153094C>T	GRCh37
NC_000017.9:g.39508620C>T	NCBI36
NG_015818.1:g.9997C>T , LRG_182:g.9997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*561C>T	ENSP00000466983.1:n.*561C>T
ENST00000588558.6:c.*699C>T	ENSP00000467624.1:n.*699C>T
ENST00000590253.3:c.*17C>T	ENSP00000465111.2:n.*17C>T
ENST00000593115.2:c.*745C>T	ENSP00000466821.1:n.*745C>T
ENST00000696383.1:c.379C>T	ENSP00000512593.1:p.His127Tyr
ENST00000696384.1:c.*284C>T	ENSP00000512594.1:n.*284C>T
ENST00000696385.1:c.*442C>T	ENSP00000512595.1:n.*442C>T
ENST00000696386.1:c.*17C>T	ENSP00000512596.1:n.*17C>T
ENST00000696387.1:c.*351C>T	ENSP00000512597.1:n.*351C>T
ENST00000696388.1:c.*570C>T	ENSP00000512598.1:n.*570C>T
ENST00000696389.1:c.*755C>T	ENSP00000512599.1:n.*755C>T
ENST00000696390.1:c.514C>T	ENSP00000512600.1:p.His172Tyr
ENST00000696391.1:c.*580C>T	ENSP00000512601.1:n.*580C>T
ENST00000696392.1:c.724C>T	ENSP00000512602.1:p.His242Tyr
ENST00000696393.1:c.724C>T	ENSP00000512603.1:p.His242Tyr
ENST00000696405.1:c.677+275C>T	ENSP00000512607.1:n.677+275C>T
ENST00000269097.9:c.724C>T MANE Select	ENSP00000269097.3:p.His242Tyr
ENST00000269097.8:c.724C>T	ENSP00000269097.3:p.His242Tyr
ENST00000585361.5:c.*561C>T	ENSP00000466983.1:n.*561C>T
ENST00000588558.5:c.*699C>T	ENSP00000467624.1:n.*699C>T
ENST00000590253.2:c.226C>T
ENST00000590639.1:n.745C>T
ENST00000591696.1:c.616C>T	ENSP00000468677.1:p.His206Tyr
NM_138387.3:c.724C>T , LRG_182t1:c.724C>T	NP_612396.1:p.His242Tyr
NR_028581.1:n.1154C>T
NR_028582.1:n.1019C>T
XM_011525473.1:c.379C>T	XP_011523775.1:p.His127Tyr
XM_011525474.1:c.379C>T	XP_011523776.1:p.His127Tyr
NM_001319945.1:c.*17C>T	NP_001306874.1:n.*17C>T
XM_011525473.3:c.379C>T	XP_011523775.1:p.His127Tyr
XM_011525474.3:c.379C>T	XP_011523776.1:p.His127Tyr
XM_017025335.2:c.379C>T	XP_016880824.1:p.His127Tyr
NM_001319945.2:c.*17C>T	NP_001306874.1:n.*17C>T
NR_028581.2:n.973C>T
NR_028582.2:n.838C>T
NM_001384165.1:c.379C>T	NP_001371094.1:p.His127Tyr
NM_001384166.1:c.379C>T	NP_001371095.1:p.His127Tyr
NM_001384167.1:c.379C>T	NP_001371096.1:p.His127Tyr
NM_001384168.1:c.379C>T	NP_001371097.1:p.His127Tyr
NM_138387.4:c.724C>T MANE Select	NP_612396.1:p.His242Tyr