Canonical Allele Identifier: CA4696093
Gene: EXTL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2022043
ClinVar RCV Id: RCV002847475
dbSNP Id: rs750343583
gnomAD v2: 8-28574504-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28716987C>A , CM000670.2:g.28716987C>A GRCh38
NC_000008.10:g.28574504C>A , CM000670.1:g.28574504C>A GRCh37
NC_000008.9:g.28630423C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696177.1:c.928C>A ENSP00000512467.1:p.Pro310Thr
ENST00000696178.1:c.928C>A ENSP00000512468.1:p.Pro310Thr
ENST00000696179.1:c.928C>A ENSP00000512469.1:p.Pro310Thr
ENST00000696180.1:c.928C>A ENSP00000512470.1:p.Pro310Thr
ENST00000696181.1:c.928C>A ENSP00000512471.1:p.Pro310Thr
ENST00000696182.1:c.-114-14236C>A ENSP00000512472.1:n.-114-14236C>A
ENST00000696184.1:c.928C>A ENSP00000512473.1:p.Pro310Thr
ENST00000696185.1:n.1561C>A
ENST00000696186.1:c.928C>A ENSP00000512474.1:p.Pro310Thr
ENST00000220562.9:c.928C>A MANE Select ENSP00000220562.4:p.Pro310Thr
ENST00000220562.8:c.928C>A ENSP00000220562.4:p.Pro310Thr
ENST00000519886.5:n.631+921C>A
ENST00000521532.5:c.42+6484C>A ENSP00000431013.1:n.42+6484C>A
ENST00000522698.1:c.213+90C>A
ENST00000523149.5:c.28-252C>A ENSP00000428691.1:n.28-252C>A
NM_001440.3:c.928C>A NP_001431.1:p.Pro310Thr
NR_073468.1:n.188-14236C>A
NR_073469.1:n.763+921C>A
XM_011544440.1:c.928C>A XP_011542742.1:p.Pro310Thr
XM_011544440.3:c.928C>A XP_011542742.1:p.Pro310Thr
XM_024447094.1:c.928C>A XP_024302862.1:p.Pro310Thr
XM_024447095.1:c.928C>A XP_024302863.1:p.Pro310Thr
XM_024447096.1:c.928C>A XP_024302864.1:p.Pro310Thr
NM_001440.4:c.928C>A MANE Select NP_001431.1:p.Pro310Thr
NR_073468.2:n.160-14236C>A
NR_073469.2:n.735+921C>A