Canonical Allele Identifier: CA4696097
Gene: EXTL3 HGNC NCBI

Linked Data

dbSNP Id: rs768072663
gnomAD v2: 8-28574510-T-C
gnomAD v4: 8-28716993-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28716993T>C , CM000670.2:g.28716993T>C GRCh38
NC_000008.10:g.28574510T>C , CM000670.1:g.28574510T>C GRCh37
NC_000008.9:g.28630429T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696177.1:c.934T>C ENSP00000512467.1:p.Phe312Leu
ENST00000696178.1:c.934T>C ENSP00000512468.1:p.Phe312Leu
ENST00000696179.1:c.934T>C ENSP00000512469.1:p.Phe312Leu
ENST00000696180.1:c.934T>C ENSP00000512470.1:p.Phe312Leu
ENST00000696181.1:c.934T>C ENSP00000512471.1:p.Phe312Leu
ENST00000696182.1:c.-114-14230T>C ENSP00000512472.1:n.-114-14230T>C
ENST00000696184.1:c.934T>C ENSP00000512473.1:p.Phe312Leu
ENST00000696185.1:n.1567T>C
ENST00000696186.1:c.934T>C ENSP00000512474.1:p.Phe312Leu
ENST00000220562.9:c.934T>C MANE Select ENSP00000220562.4:p.Phe312Leu
ENST00000220562.8:c.934T>C ENSP00000220562.4:p.Phe312Leu
ENST00000519886.5:n.631+927T>C
ENST00000521532.5:c.42+6490T>C ENSP00000431013.1:n.42+6490T>C
ENST00000522698.1:c.213+96T>C
ENST00000523149.5:c.28-246T>C ENSP00000428691.1:n.28-246T>C
NM_001440.3:c.934T>C NP_001431.1:p.Phe312Leu
NR_073468.1:n.188-14230T>C
NR_073469.1:n.763+927T>C
XM_011544440.1:c.934T>C XP_011542742.1:p.Phe312Leu
XM_011544440.3:c.934T>C XP_011542742.1:p.Phe312Leu
XM_024447094.1:c.934T>C XP_024302862.1:p.Phe312Leu
XM_024447095.1:c.934T>C XP_024302863.1:p.Phe312Leu
XM_024447096.1:c.934T>C XP_024302864.1:p.Phe312Leu
NM_001440.4:c.934T>C MANE Select NP_001431.1:p.Phe312Leu
NR_073468.2:n.160-14230T>C
NR_073469.2:n.735+927T>C