Canonical Allele Identifier: CA1773391298

Gene: EXTL3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28716808T= , CM000670.2:g.28716808T=	GRCh38
NC_000008.10:g.28574325T= , CM000670.1:g.28574325T=	GRCh37
NC_000008.9:g.28630244T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.749T=	ENSP00000512467.1:p.Val250=
ENST00000696178.1:c.749T=	ENSP00000512468.1:p.Val250=
ENST00000696179.1:c.749T=	ENSP00000512469.1:p.Val250=
ENST00000696180.1:c.749T=	ENSP00000512470.1:p.Val250=
ENST00000696181.1:c.749T=	ENSP00000512471.1:p.Val250=
ENST00000696182.1:c.-114-14415T=	ENSP00000512472.1:n.-114-14415T=
ENST00000696184.1:c.749T=	ENSP00000512473.1:p.Val250=
ENST00000696185.1:n.1382T=
ENST00000696186.1:c.749T=	ENSP00000512474.1:p.Val250=
ENST00000220562.9:c.749T= MANE Select	ENSP00000220562.4:p.Val250=
ENST00000220562.8:c.749T=	ENSP00000220562.4:p.Val250=
ENST00000519886.5:n.631+742T=
ENST00000521532.5:c.42+6305T=	ENSP00000431013.1:n.42+6305T=
ENST00000522698.1:c.124T=
ENST00000523149.5:c.28-431T=	ENSP00000428691.1:n.28-431T=
NM_001440.3:c.749T=	NP_001431.1:p.Val250=
NR_073468.1:n.188-14415T=
NR_073469.1:n.763+742T=
XM_011544440.1:c.749T=	XP_011542742.1:p.Val250=
XM_011544440.3:c.749T=	XP_011542742.1:p.Val250=
XM_024447094.1:c.749T=	XP_024302862.1:p.Val250=
XM_024447095.1:c.749T=	XP_024302863.1:p.Val250=
XM_024447096.1:c.749T=	XP_024302864.1:p.Val250=
NM_001440.4:c.749T= MANE Select	NP_001431.1:p.Val250=
NR_073468.2:n.160-14415T=
NR_073469.2:n.735+742T=