Canonical Allele Identifier: CA4696046
Gene: EXTL3 HGNC NCBI

Linked Data

dbSNP Id: rs764555341
gnomAD v2: 8-28574276-A-G
gnomAD v4: 8-28716759-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28716759A>G , CM000670.2:g.28716759A>G GRCh38
NC_000008.10:g.28574276A>G , CM000670.1:g.28574276A>G GRCh37
NC_000008.9:g.28630195A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696177.1:c.700A>G ENSP00000512467.1:p.Ile234Val
ENST00000696178.1:c.700A>G ENSP00000512468.1:p.Ile234Val
ENST00000696179.1:c.700A>G ENSP00000512469.1:p.Ile234Val
ENST00000696180.1:c.700A>G ENSP00000512470.1:p.Ile234Val
ENST00000696181.1:c.700A>G ENSP00000512471.1:p.Ile234Val
ENST00000696182.1:c.-114-14464A>G ENSP00000512472.1:n.-114-14464A>G
ENST00000696184.1:c.700A>G ENSP00000512473.1:p.Ile234Val
ENST00000696185.1:n.1333A>G
ENST00000696186.1:c.700A>G ENSP00000512474.1:p.Ile234Val
ENST00000220562.9:c.700A>G MANE Select ENSP00000220562.4:p.Ile234Val
ENST00000220562.8:c.700A>G ENSP00000220562.4:p.Ile234Val
ENST00000519886.5:n.631+693A>G
ENST00000521532.5:c.42+6256A>G ENSP00000431013.1:n.42+6256A>G
ENST00000522698.1:c.75A>G
ENST00000523149.5:c.28-480A>G ENSP00000428691.1:n.28-480A>G
NM_001440.3:c.700A>G NP_001431.1:p.Ile234Val
NR_073468.1:n.188-14464A>G
NR_073469.1:n.763+693A>G
XM_011544440.1:c.700A>G XP_011542742.1:p.Ile234Val
XM_011544440.3:c.700A>G XP_011542742.1:p.Ile234Val
XM_024447094.1:c.700A>G XP_024302862.1:p.Ile234Val
XM_024447095.1:c.700A>G XP_024302863.1:p.Ile234Val
XM_024447096.1:c.700A>G XP_024302864.1:p.Ile234Val
NM_001440.4:c.700A>G MANE Select NP_001431.1:p.Ile234Val
NR_073468.2:n.160-14464A>G
NR_073469.2:n.735+693A>G