Canonical Allele Identifier: CA370856471
Gene: EXTL3 HGNC NCBI

Linked Data

dbSNP Id: rs749286787
gnomAD v2: 8-28574088-C-G
gnomAD v3: 8-28716571-C-G
gnomAD v4: 8-28716571-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28716571C>G , CM000670.2:g.28716571C>G GRCh38
NC_000008.10:g.28574088C>G , CM000670.1:g.28574088C>G GRCh37
NC_000008.9:g.28630007C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696177.1:c.512C>G ENSP00000512467.1:p.Pro171Arg
ENST00000696178.1:c.512C>G ENSP00000512468.1:p.Pro171Arg
ENST00000696179.1:c.512C>G ENSP00000512469.1:p.Pro171Arg
ENST00000696180.1:c.512C>G ENSP00000512470.1:p.Pro171Arg
ENST00000696181.1:c.512C>G ENSP00000512471.1:p.Pro171Arg
ENST00000696182.1:c.-114-14652C>G ENSP00000512472.1:n.-114-14652C>G
ENST00000696184.1:c.512C>G ENSP00000512473.1:p.Pro171Arg
ENST00000696185.1:n.1145C>G
ENST00000696186.1:c.512C>G ENSP00000512474.1:p.Pro171Arg
ENST00000220562.9:c.512C>G MANE Select ENSP00000220562.4:p.Pro171Arg
ENST00000220562.8:c.512C>G ENSP00000220562.4:p.Pro171Arg
ENST00000519886.5:n.631+505C>G
ENST00000521532.5:c.42+6068C>G ENSP00000431013.1:n.42+6068C>G
ENST00000523149.5:c.28-668C>G ENSP00000428691.1:n.28-668C>G
NM_001440.3:c.512C>G NP_001431.1:p.Pro171Arg
NR_073468.1:n.188-14652C>G
NR_073469.1:n.763+505C>G
XM_011544440.1:c.512C>G XP_011542742.1:p.Pro171Arg
XM_011544440.3:c.512C>G XP_011542742.1:p.Pro171Arg
XM_024447094.1:c.512C>G XP_024302862.1:p.Pro171Arg
XM_024447095.1:c.512C>G XP_024302863.1:p.Pro171Arg
XM_024447096.1:c.512C>G XP_024302864.1:p.Pro171Arg
NM_001440.4:c.512C>G MANE Select NP_001431.1:p.Pro171Arg
NR_073468.2:n.160-14652C>G
NR_073469.2:n.735+505C>G