Canonical Allele Identifier: CA370858101
Gene: EXTL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 623480
ClinVar RCV Id: RCV000761559
gnomAD: 8:28574529 C / T
MyVariant Identifiers: chr8:g.28574529C>T (hg19) chr8:g.28717012C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.28717012C>T , CM000670.2:g.28717012C>T GRCh38
NC_000008.10:g.28574529C>T , CM000670.1:g.28574529C>T GRCh37
NC_000008.9:g.28630448C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000220562.9:c.953C>T MANE Select ENSP00000220562.4:p.Pro318Leu
ENST00000220562.8:c.953C>T ENSP00000220562.4:p.Pro318Leu
ENST00000519886.5:n.631+946C>T
ENST00000521532.5:c.42+6509C>T ENSP00000431013.1:p.=
ENST00000522698.1:n.213+115C>T
ENST00000523149.5:c.28-227C>T ENSP00000428691.1:p.=
NM_001440.3:c.953C>T NP_001431.1:p.Pro318Leu
NR_073468.1:n.188-14211C>T
NR_073469.1:n.763+946C>T
XM_011544440.1:c.953C>T XP_011542742.1:p.Pro318Leu
XM_011544440.3:c.953C>T XP_011542742.1:p.Pro318Leu
XM_024447094.1:c.953C>T XP_024302862.1:p.Pro318Leu
XM_024447095.1:c.953C>T XP_024302863.1:p.Pro318Leu
XM_024447096.1:c.953C>T XP_024302864.1:p.Pro318Leu
NM_001440.4:c.953C>T MANE Select NP_001431.1:p.Pro318Leu
NR_073468.2:n.160-14211C>T
NR_073469.2:n.735+946C>T
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