Canonical Allele Identifier: CA2192106372
Community Standard Title: NM_207517.3(ADAMTSL3):c.4979C= (p.Thr1660=)
Gene: ADAMTSL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84037709C= , CM000677.2:g.84037709C= GRCh38
NC_000015.9:g.84706461C= , CM000677.1:g.84706461C= GRCh37
NC_000015.8:g.82497465C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_207517.3:c.4979C= MANE Select NP_997400.2:p.Thr1660=
ENST00000286744.10:c.4979C= MANE Select ENSP00000286744.5:p.Thr1660=
NM_001301110.1:c.4987-54C= NP_001288039.1:n.4987-54C=
NM_001301110.2:c.4987-54C= NP_001288039.1:n.4987-54C=
NM_207517.2:c.4979C= NP_997400.2:p.Thr1660=
ENST00000286744.9:c.4979C= ENSP00000286744.5:p.Thr1660=
ENST00000567476.1:c.4987-54C= ENSP00000456313.1:n.4987-54C=
XM_011521821.1:c.5068-54C= XP_011520123.1:n.5068-54C=
XM_011521822.1:c.5060C= XP_011520124.1:p.Thr1687=
XM_011521822.2:c.5060C= XP_011520124.1:p.Thr1687=
XM_011521823.1:c.5077C= XP_011520125.1:p.Gln1693=
XM_011521823.2:c.5077C= XP_011520125.1:p.Gln1693=
XM_011521824.1:c.5051-54C= XP_011520126.1:n.5051-54C=
XM_011521824.2:c.5051-54C= XP_011520126.1:n.5051-54C=
XM_017022434.1:c.5068-54C= XP_016877923.1:n.5068-54C=
XM_017022435.1:c.4484C= XP_016877924.1:p.Thr1495=