Canonical Allele Identifier: CA399729441

Gene: G6PC3

Linked Data

• MyVariant Identifiers: chr17:g.42153218A>C (hg19) ; chr17:g.44075850A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44075850A>C , CM000679.2:g.44075850A>C	GRCh38
NC_000017.10:g.42153218A>C , CM000679.1:g.42153218A>C	GRCh37
NC_000017.9:g.39508744A>C	NCBI36
NG_015818.1:g.10121A>C , LRG_182:g.10121A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585361.6:c.*685A>C	ENSP00000466983.1:n.*685A>C
ENST00000588558.6:c.*823A>C	ENSP00000467624.1:n.*823A>C
ENST00000590253.3:c.*141A>C	ENSP00000465111.2:n.*141A>C
ENST00000593115.2:c.*869A>C	ENSP00000466821.1:n.*869A>C
ENST00000696383.1:c.503A>C	ENSP00000512593.1:p.Lys168Thr
ENST00000696384.1:c.*408A>C	ENSP00000512594.1:n.*408A>C
ENST00000696385.1:c.*566A>C	ENSP00000512595.1:n.*566A>C
ENST00000696386.1:c.*141A>C	ENSP00000512596.1:n.*141A>C
ENST00000696387.1:c.*475A>C	ENSP00000512597.1:n.*475A>C
ENST00000696388.1:c.*694A>C	ENSP00000512598.1:n.*694A>C
ENST00000696389.1:c.*879A>C	ENSP00000512599.1:n.*879A>C
ENST00000696390.1:c.638A>C	ENSP00000512600.1:p.Lys213Thr
ENST00000696391.1:c.*704A>C	ENSP00000512601.1:n.*704A>C
ENST00000696392.1:c.816+32A>C	ENSP00000512602.1:n.816+32A>C
ENST00000696393.1:c.816+32A>C	ENSP00000512603.1:n.816+32A>C
ENST00000696405.1:c.677+399A>C	ENSP00000512607.1:n.677+399A>C
ENST00000269097.9:c.848A>C MANE Select	ENSP00000269097.3:p.Lys283Thr
ENST00000269097.8:c.848A>C	ENSP00000269097.3:p.Lys283Thr
ENST00000585361.5:c.*685A>C	ENSP00000466983.1:n.*685A>C
ENST00000588558.5:c.*823A>C	ENSP00000467624.1:n.*823A>C
ENST00000590253.2:c.350A>C
NM_138387.3:c.848A>C , LRG_182t1:c.848A>C	NP_612396.1:p.Lys283Thr
NR_028581.1:n.1278A>C
NR_028582.1:n.1143A>C
XM_011525473.1:c.503A>C	XP_011523775.1:p.Lys168Thr
XM_011525474.1:c.503A>C	XP_011523776.1:p.Lys168Thr
NM_001319945.1:c.*141A>C	NP_001306874.1:n.*141A>C
XM_011525473.3:c.503A>C	XP_011523775.1:p.Lys168Thr
XM_011525474.3:c.503A>C	XP_011523776.1:p.Lys168Thr
XM_017025335.2:c.503A>C	XP_016880824.1:p.Lys168Thr
NM_001319945.2:c.*141A>C	NP_001306874.1:n.*141A>C
NR_028581.2:n.1097A>C
NR_028582.2:n.962A>C
NM_001384165.1:c.503A>C	NP_001371094.1:p.Lys168Thr
NM_001384166.1:c.503A>C	NP_001371095.1:p.Lys168Thr
NM_001384167.1:c.503A>C	NP_001371096.1:p.Lys168Thr
NM_001384168.1:c.503A>C	NP_001371097.1:p.Lys168Thr
NM_138387.4:c.848A>C MANE Select	NP_612396.1:p.Lys283Thr