Canonical Allele Identifier: CA4696363

Gene: EXTL3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28731281A>G , CM000670.2:g.28731281A>G	GRCh38
NC_000008.10:g.28588798A>G , CM000670.1:g.28588798A>G	GRCh37
NC_000008.9:g.28644717A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001440.4:c.2207A>G MANE Select	NP_001431.1:p.Glu736Gly
ENST00000220562.9:c.2207A>G MANE Select	ENSP00000220562.4:p.Glu736Gly
NM_001440.3:c.2207A>G	NP_001431.1:p.Glu736Gly
NR_073468.1:n.246A>G
NR_073468.2:n.218A>G
NR_073469.1:n.763+15215A>G
NR_073469.2:n.735+15215A>G
ENST00000220562.8:c.2207A>G	ENSP00000220562.4:p.Glu736Gly
ENST00000517738.1:c.-56A>G	ENSP00000430652.1:n.-56A>G
ENST00000519886.5:n.631+15215A>G
ENST00000521473.5:c.207A>G
ENST00000521532.5:c.101A>G	ENSP00000431013.1:p.Glu34Gly
ENST00000522698.1:c.272A>G
ENST00000523149.5:c.1055A>G	ENSP00000428691.1:p.Glu352Gly
ENST00000696177.1:c.2207A>G	ENSP00000512467.1:p.Glu736Gly
ENST00000696178.1:c.2207A>G	ENSP00000512468.1:p.Glu736Gly
ENST00000696179.1:c.2207A>G	ENSP00000512469.1:p.Glu736Gly
ENST00000696180.1:c.2207A>G	ENSP00000512470.1:p.Glu736Gly
ENST00000696181.1:c.2149-6238A>G	ENSP00000512471.1:n.2149-6238A>G
ENST00000696182.1:c.-56A>G	ENSP00000512472.1:n.-56A>G
ENST00000696184.1:c.2207A>G	ENSP00000512473.1:p.Glu736Gly
ENST00000696185.1:n.2840A>G
ENST00000696186.1:c.2207A>G	ENSP00000512474.1:p.Glu736Gly
ENST00000696188.1:n.162A>G
XM_011544440.1:c.2207A>G	XP_011542742.1:p.Glu736Gly
XM_011544440.3:c.2207A>G	XP_011542742.1:p.Glu736Gly
XM_024447094.1:c.2207A>G	XP_024302862.1:p.Glu736Gly
XM_024447095.1:c.2207A>G	XP_024302863.1:p.Glu736Gly
XM_024447096.1:c.2207A>G	XP_024302864.1:p.Glu736Gly