Canonical Allele Identifier: CA174386489
Gene: EXTL3 HGNC NCBI

Linked Data

dbSNP Id: rs951578170
gnomAD v2: 8-28574544-T-C
gnomAD v3: 8-28717027-T-C
gnomAD v4: 8-28717027-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28717027T>C , CM000670.2:g.28717027T>C GRCh38
NC_000008.10:g.28574544T>C , CM000670.1:g.28574544T>C GRCh37
NC_000008.9:g.28630463T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696177.1:c.968T>C ENSP00000512467.1:p.Met323Thr
ENST00000696178.1:c.968T>C ENSP00000512468.1:p.Met323Thr
ENST00000696179.1:c.968T>C ENSP00000512469.1:p.Met323Thr
ENST00000696180.1:c.968T>C ENSP00000512470.1:p.Met323Thr
ENST00000696181.1:c.968T>C ENSP00000512471.1:p.Met323Thr
ENST00000696182.1:c.-114-14196T>C ENSP00000512472.1:n.-114-14196T>C
ENST00000696184.1:c.968T>C ENSP00000512473.1:p.Met323Thr
ENST00000696185.1:n.1601T>C
ENST00000696186.1:c.968T>C ENSP00000512474.1:p.Met323Thr
ENST00000220562.9:c.968T>C MANE Select ENSP00000220562.4:p.Met323Thr
ENST00000220562.8:c.968T>C ENSP00000220562.4:p.Met323Thr
ENST00000519886.5:n.631+961T>C
ENST00000521532.5:c.42+6524T>C ENSP00000431013.1:n.42+6524T>C
ENST00000522698.1:c.213+130T>C
ENST00000523149.5:c.28-212T>C ENSP00000428691.1:n.28-212T>C
NM_001440.3:c.968T>C NP_001431.1:p.Met323Thr
NR_073468.1:n.188-14196T>C
NR_073469.1:n.763+961T>C
XM_011544440.1:c.968T>C XP_011542742.1:p.Met323Thr
XM_011544440.3:c.968T>C XP_011542742.1:p.Met323Thr
XM_024447094.1:c.968T>C XP_024302862.1:p.Met323Thr
XM_024447095.1:c.968T>C XP_024302863.1:p.Met323Thr
XM_024447096.1:c.968T>C XP_024302864.1:p.Met323Thr
NM_001440.4:c.968T>C MANE Select NP_001431.1:p.Met323Thr
NR_073468.2:n.160-14196T>C
NR_073469.2:n.735+961T>C