Canonical Allele Identifier: CA9159950

Gene: ADAMTS10

Linked Data

• ClinVar Variation Id: 330576
• ClinVar RCV Id: RCV000407774
• dbSNP Id: rs782053556
• ExAC: 19:8645821 C / T
• gnomAD v2: 19-8645821-C-T
• gnomAD v4: 19-8580937-C-T
• MyVariant Identifiers: chr19:g.8645821C>T (hg19) ; chr19:g.8580937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8580937C>T , CM000681.2:g.8580937C>T	GRCh38
NC_000019.9:g.8645821C>T , CM000681.1:g.8645821C>T	GRCh37
NC_000019.8:g.8551821C>T	NCBI36
NG_011840.2:g.34766G>A
NG_052844.1:g.1511G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000597188.6:c.3268G>A MANE Select	ENSP00000471851.1:p.Ala1090Thr
ENST00000270328.8:c.3268G>A	ENSP00000270328.4:p.Ala1090Thr
ENST00000593913.5:c.*2145G>A	ENSP00000469901.1:n.*2145G>A
ENST00000595838.5:c.1729G>A	ENSP00000470501.1:p.Ala577Thr
ENST00000597188.5:c.3268G>A	ENSP00000471851.1:p.Ala1090Thr
NM_001282352.1:c.1729G>A	NP_001269281.1:p.Ala577Thr
NM_030957.3:c.3268G>A	NP_112219.3:p.Ala1090Thr
XM_006722917.2:c.2311G>A	XP_006722980.1:p.Ala771Thr
XM_011528331.1:c.3415G>A	XP_011526633.1:p.Ala1139Thr
XM_011528332.1:c.3415G>A	XP_011526634.1:p.Ala1139Thr
XM_011528333.1:c.3415G>A	XP_011526635.1:p.Ala1139Thr
XM_011528334.1:c.3091G>A	XP_011526636.1:p.Ala1031Thr
XM_011528335.1:c.1984G>A	XP_011526637.1:p.Ala662Thr
XM_011528336.1:c.1978G>A	XP_011526638.1:p.Ala660Thr
XM_006722917.3:c.2311G>A	XP_006722980.1:p.Ala771Thr
XM_017027338.2:c.3268G>A	XP_016882827.1:p.Ala1090Thr
XM_017027339.1:c.1837G>A	XP_016882828.1:p.Ala613Thr
XM_017027340.1:c.1831G>A	XP_016882829.1:p.Ala611Thr
NM_030957.4:c.3268G>A MANE Select	NP_112219.3:p.Ala1090Thr
NM_001282352.2:c.1729G>A	NP_001269281.1:p.Ala577Thr