Canonical Allele Identifier: CA4696017
Gene: EXTL3 HGNC NCBI

Linked Data

dbSNP Id: rs560576617
gnomAD v2: 8-28574100-G-A
gnomAD v3: 8-28716583-G-A
gnomAD v4: 8-28716583-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28716583G>A , CM000670.2:g.28716583G>A GRCh38
NC_000008.10:g.28574100G>A , CM000670.1:g.28574100G>A GRCh37
NC_000008.9:g.28630019G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696177.1:c.524G>A ENSP00000512467.1:p.Arg175Gln
ENST00000696178.1:c.524G>A ENSP00000512468.1:p.Arg175Gln
ENST00000696179.1:c.524G>A ENSP00000512469.1:p.Arg175Gln
ENST00000696180.1:c.524G>A ENSP00000512470.1:p.Arg175Gln
ENST00000696181.1:c.524G>A ENSP00000512471.1:p.Arg175Gln
ENST00000696182.1:c.-114-14640G>A ENSP00000512472.1:n.-114-14640G>A
ENST00000696184.1:c.524G>A ENSP00000512473.1:p.Arg175Gln
ENST00000696185.1:n.1157G>A
ENST00000696186.1:c.524G>A ENSP00000512474.1:p.Arg175Gln
ENST00000220562.9:c.524G>A MANE Select ENSP00000220562.4:p.Arg175Gln
ENST00000220562.8:c.524G>A ENSP00000220562.4:p.Arg175Gln
ENST00000519886.5:n.631+517G>A
ENST00000521532.5:c.42+6080G>A ENSP00000431013.1:n.42+6080G>A
ENST00000523149.5:c.28-656G>A ENSP00000428691.1:n.28-656G>A
NM_001440.3:c.524G>A NP_001431.1:p.Arg175Gln
NR_073468.1:n.188-14640G>A
NR_073469.1:n.763+517G>A
XM_011544440.1:c.524G>A XP_011542742.1:p.Arg175Gln
XM_011544440.3:c.524G>A XP_011542742.1:p.Arg175Gln
XM_024447094.1:c.524G>A XP_024302862.1:p.Arg175Gln
XM_024447095.1:c.524G>A XP_024302863.1:p.Arg175Gln
XM_024447096.1:c.524G>A XP_024302864.1:p.Arg175Gln
NM_001440.4:c.524G>A MANE Select NP_001431.1:p.Arg175Gln
NR_073468.2:n.160-14640G>A
NR_073469.2:n.735+517G>A