Canonical Allele Identifier: CA9159947
Gene: ADAMTS10 HGNC NCBI

Linked Data

dbSNP Id: rs782301780
gnomAD v2: 19-8645811-C-T
gnomAD v4: 19-8580927-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8580927C>T , CM000681.2:g.8580927C>T GRCh38
NC_000019.9:g.8645811C>T , CM000681.1:g.8645811C>T GRCh37
NC_000019.8:g.8551811C>T NCBI36
NG_011840.2:g.34776G>A
NG_052844.1:g.1521G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000597188.6:c.3278G>A MANE Select ENSP00000471851.1:p.Arg1093His
ENST00000270328.8:c.3278G>A ENSP00000270328.4:p.Arg1093His
ENST00000593913.5:c.*2155G>A ENSP00000469901.1:n.*2155G>A
ENST00000595838.5:c.1739G>A ENSP00000470501.1:p.Arg580His
ENST00000597188.5:c.3278G>A ENSP00000471851.1:p.Arg1093His
NM_001282352.1:c.1739G>A NP_001269281.1:p.Arg580His
NM_030957.3:c.3278G>A NP_112219.3:p.Arg1093His
XM_006722917.2:c.2321G>A XP_006722980.1:p.Arg774His
XM_011528331.1:c.3425G>A XP_011526633.1:p.Arg1142His
XM_011528332.1:c.3425G>A XP_011526634.1:p.Arg1142His
XM_011528333.1:c.3425G>A XP_011526635.1:p.Arg1142His
XM_011528334.1:c.3101G>A XP_011526636.1:p.Arg1034His
XM_011528335.1:c.1994G>A XP_011526637.1:p.Arg665His
XM_011528336.1:c.1988G>A XP_011526638.1:p.Arg663His
XM_006722917.3:c.2321G>A XP_006722980.1:p.Arg774His
XM_017027338.2:c.3278G>A XP_016882827.1:p.Arg1093His
XM_017027339.1:c.1847G>A XP_016882828.1:p.Arg616His
XM_017027340.1:c.1841G>A XP_016882829.1:p.Arg614His
NM_030957.4:c.3278G>A MANE Select NP_112219.3:p.Arg1093His
NM_001282352.2:c.1739G>A NP_001269281.1:p.Arg580His