Canonical Allele Identifier: CA393346593

Gene: ADAMTSL3

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_207517.3:c.4979C>A MANE Select	NP_997400.2:p.Thr1660Lys
ENST00000286744.10:c.4979C>A MANE Select	ENSP00000286744.5:p.Thr1660Lys
NM_001301110.1:c.4987-54C>A	NP_001288039.1:n.4987-54C>A
NM_001301110.2:c.4987-54C>A	NP_001288039.1:n.4987-54C>A
NM_207517.2:c.4979C>A	NP_997400.2:p.Thr1660Lys
ENST00000286744.9:c.4979C>A	ENSP00000286744.5:p.Thr1660Lys
ENST00000567476.1:c.4987-54C>A	ENSP00000456313.1:n.4987-54C>A
XM_011521821.1:c.5068-54C>A	XP_011520123.1:n.5068-54C>A
XM_011521822.1:c.5060C>A	XP_011520124.1:p.Thr1687Lys
XM_011521822.2:c.5060C>A	XP_011520124.1:p.Thr1687Lys
XM_011521823.1:c.5077C>A	XP_011520125.1:p.Gln1693Lys
XM_011521823.2:c.5077C>A	XP_011520125.1:p.Gln1693Lys
XM_011521824.1:c.5051-54C>A	XP_011520126.1:n.5051-54C>A
XM_011521824.2:c.5051-54C>A	XP_011520126.1:n.5051-54C>A
XM_017022434.1:c.5068-54C>A	XP_016877923.1:n.5068-54C>A
XM_017022435.1:c.4484C>A	XP_016877924.1:p.Thr1495Lys